ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data.
paper
Cited
Public
- Authors
- Wang, Kai; Li, Mingyao; Hakonarson, Hakon
- Year
- 2010
- Journal
- Nucleic acids research
- PMID
- 20601685
- DOI
- 10.1093/nar/gkq603
- PMCID
- PMC2938201
High-throughput sequencing platforms are generating massive amounts of genetic variation data for diverse genomes, but it remains a challenge to pinpoint a small subset of functionally important variants. To fill these unmet needs, we developed the ANNOVAR tool to annotate single nucleotide variants (SNVs) and insertions/deletions, such as examining their functional consequence on genes, inferring cytogenetic bands, reporting functional importance scores, finding variants in conserved regions, or identifying variants reported in the 1000 Genomes Project and dbSNP. ANNOVAR can utilize annotation databases from the UCSC Genome Browser or any annotation data set conforming to Generic Feature Format version 3 (GFF3). We also illustrate a 'variants reduction' protocol on 4.7 million SNVs and indels from a human genome, including two causal mutations for Miller syndrome, a rare recessive disease. Through a stepwise procedure, we excluded variants that are unlikely to be causal, and identified 20 candidate genes including the causal gene. Using a desktop computer, ANNOVAR requires ∼4 min to perform gene-based annotation and ∼15 min to perform variants reduction on 4.7 million variants, making it practical to handle hundreds of human genomes in a day. ANNOVAR is freely available at http://www.openbioinformatics.org/annovar/.
Identification of genes responsible for Miller syndrome using a synthetic data set. The input data set includes all SNVs and indels in subject NA18107 generated by Illumina, as well as two variants known to cause Miller syndrome. The variants reduction method can be implemented by an automation script (auto_annovar.pl) in the ANNOVAR package.
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| NOL10 variant disrupts ribosome biogenesis and underlies hippocampal sclerosis. | Kumar A et al. | — | 2026 | → |
| Novel biallelic DNHD1 variants associated with male infertility with severe MMAF phenotype. | Uddin I et al. | — | 2026 | → |
| NtMBD1 regulates shoot branching regulation and evolutionary differentiation in tobacco (Nicotiana tabacum L.). | Wu Q et al. | — | 2026 | → |
| OncoDB 2.0: a comprehensive platform for integrated pan-cancer omics analysis. | Cho M et al. | — | 2026 | → |
| Oncogenicity Variant Interpreter: Oncogenicity Guidelines Implementation to Support Somatic Variants Interpretation in Precision Oncology. | Carta MG et al. | — | 2026 | → |
| Optimizing next-generation sequencing for genetic diagnosis in autosomal dominant polycystic kidney disease. | Ma D et al. | — | 2026 | → |
| Overdominance for fitness: a genomic comparison between empirical and simulated data with Drosophila melanogaster. | González-Castellano I et al. | — | 2026 | → |
| Overlap between COPD genetic association results and transcriptional quantitative trait loci. | Saferali A et al. | — | 2026 | → |
| Pancancer Fine-Mapping of Mutational Intolerance Identifies CHEK1 as an Immunosuppressive Driver in Lung Adenocarcinoma. | Wang T et al. | — | 2026 | → |
| Personalized medicine strategy for MPNSTs: using precision oncology on PDOX models to inform tumor boards. | Ortega-Bertran S et al. | — | 2026 | → |
| PGVDA: a pathway-aggregated genetic dosage framework for interpretable disease classification using machine learning. | Shon S et al. | — | 2026 | → |
| Placental insufficiency markers to assess the risk of non-chromosomal genetic conditions in early-onset fetal growth restriction. | Armengol-Alsina M et al. | — | 2026 | → |
| Pleiotropic genes linking congenital hypogonadotropic hypogonadism and cleft lip/palate: evidence from a genomic CHH cohort study. | Correa FA et al. | — | 2026 | → |
| PMEL governs autosomal dominant inheritance of white-tail independent of yellow body plumage in chickens (Gallus gallus domesticus). | Huang X et al. | — | 2026 | → |
| Polygenic Contribution to Sensorineural Hearing Loss Implicates Novel Risk Loci and Convergence with Congenital Hearing Loss Genes. | Clifford RE et al. | — | 2026 | → |
| Population- and haplotype-dependent variation around <i>TYR</i> rs1126809: An in silico study for melanoma risk research. | Balogh ÁÁ et al. | — | 2026 | → |
| Population-level structural variant characterization using pangenome graphs. | Wang S et al. | — | 2026 | → |
| Population structure of wild and cultivated grapevines in Armenia. | Nikoghosyan M et al. | — | 2026 | → |
| Population structure, regions of homozygosity (ROH) and selection signal of two domesitic goat breeds revealed by whole-genome resequencing. | Han M et al. | — | 2026 | → |
| Pre-diagnostic clonal hematopoiesis of indeterminate potential among patients with a primary cancer and risk of second cancers. | Liu X et al. | — | 2026 | → |
| Predicting the functional impact of single nucleotide variants in Drosophila melanogaster with FlyCADD. | Beets J et al. | — | 2026 | → |
| Primary pulmonary Langerhans cell histiocytosis: comprehensive clinicopathologic and molecular genetic analysis of 13 cases. | Zhang Y et al. | — | 2026 | → |
| PUMA-induced apoptosis drives bone marrow failure and genomic instability in telomerase-deficient mice. | Molnar C et al. | — | 2026 | → |
| Quantitative trait loci identification reveals cell-wall invertase 4 as a new candidate gene controlling tiller number in orchardgrass. | Xu X et al. | — | 2026 | → |
| Rare coding mutations in the glucagon-like peptide-2 pathway are associated with increased risk of binge eating disorders. | Lutter M | — | 2026 | → |
| Rare genetic variant risks in patients with sepsis-associated acute respiratory distress syndrome. | Tosco-Herrera E et al. | — | 2026 | → |
| RE-Aging: A functional analysis platform for human RNA editing associated with aging. | Pan X et al. | — | 2026 | → |
| Response to Immune Checkpoint Blockade Is Enhanced in the Presence of Hematopoietic TET2 Inactivation. | Rondeau V et al. | — | 2026 | → |
| RXFP2 gene variation drives horn sexual differences and polledness in sheep. | Hu X et al. | — | 2026 | → |
| Scalable and accurate rare-variant association tests for whole genome sequencing time-to-event analysis in large biobanks. | Song S et al. | — | 2026 | → |
| Sequence-dependent splicing dysregulation drives therapy resistance in pediatric AML. | Huang Y et al. | — | 2026 | → |
| Serum Minerals and Male Age-related Hypogonadism: Multimodal Evidence Decoding Associations and Intervention Strategies. | Xie J et al. | — | 2026 | → |
| Sex effects on gene expression across the human cerebral cortex at cell type resolution. | DeCasien AR et al. | — | 2026 | → |
| Shared historical refugia and genetic diversity hotspots of co-distributed species on the Qinghai Tibet plateau. | Lv H et al. | — | 2026 | → |
| Shared latent genetic liability across fibromyalgia and psychiatric traits: Novel insights from genomic structural equation modeling. | Lin L et al. | — | 2026 | → |
| Short tandem repeat expansions in patients with neurodegenerative dementia. | Zhu Y et al. | — | 2026 | → |
| Signature-aware deep learning reveals distinct driver gene programs and mutational processes in glioblastoma and colon adenocarcinoma. | Zubair M et al. | — | 2026 | → |
| Single-cell epigenetic landscape, microenvironment interactions, and gene regulatory modules of non-functioning pituitary adenomas. | Zhang Z et al. | — | 2026 | → |
| Somatic alterations of genitourinary malignancy of Chinese population based on tumor NGS data. | Lu X et al. | — | 2026 | → |
| Somatic cancer variants enriched in Alzheimer's disease microglia-like cells drive inflammatory and proliferative states. | Huang AY et al. | — | 2026 | → |
| Somatic mosaicism in ALS and FTD identifies focal mutations associated with widespread degeneration. | Zhou Z et al. | — | 2026 | → |
| Somatic structural variants drive upper tract urothelial carcinoma muscle invasiveness via activation of TPX2 transcription. | Xu Z et al. | — | 2026 | → |
| Spatial gene expression analysis reveals drivers of extremely early lymph node metastasis in breast cancer. | Nagasawa S et al. | — | 2026 | → |
| Structural Destabilization of FRMD3 by a FERM Domain Mutation Causes Hypomyelinating Disease via Oligodendrocyte Dysfunction. | Diksha et al. | — | 2026 | → |
| Structural Variation and 3D Genome-Driven DNA/RNA Methylation Divergence Contributing to Cotton Fiber Domestication. | Shao L et al. | — | 2026 | → |
| Systemic brain-body metabolic coupling patterns in amyotrophic lateral sclerosis: a whole-body [<sup>18</sup>F] fluorodeoxyglucose PET/CT study across clinical phenotypes. | Hou M et al. | — | 2026 | → |
| Targeting thymine DNA glycosylase induces synthetic lethality in p53-deficient cancers. | Zhou JX et al. | — | 2026 | → |
| Telomere-to-telomere genome assembly of a male pig provides insight into population structure and selection for body stature. | Luo YB et al. | — | 2026 | → |
| Tet2 deficiency alters CD4+ T cell function and promotes T cell lymphoma with a TFH cell immunophenotype. | Heavican-Foral TB et al. | — | 2026 | → |
| The Bra1K array: an efficient and versatile 1K liquid-phase SNP chip for genetics and breeding in Chinese cabbage. | Yang S et al. | — | 2026 | → |
| The consensus molecular subtypes of esophageal squamous cell carcinoma. | Cui H et al. | — | 2026 | → |
| The genetic architecture of human cerebellar morphology supports a key role for the cerebellum in human evolution and psychopathology. | Moberget T et al. | — | 2026 | → |
| The Gwangju Alzheimer's & Related Dementias (GARD) cohort: Over a decade of Asia's largest longitudinal multimodal study. | Choi KY et al. | — | 2026 | → |
| The Landscape of CEACAM5 Expression by Immunohistochemistry in NSCLC. | Hsu YR et al. | — | 2026 | → |
| Transcriptomic landscape of transposable elements reveals <i>LTR7</i>-<i>PLAAT4</i> as a potential oncogene and therapeutic target in pancreatic adenocarcinoma. | Shi M et al. | — | 2026 | → |
| Trisomy 21 Drives ADARB1 Overexpression and Premature RNA Recoding in the Developing Fetal Brain. | Breen MS et al. | — | 2026 | → |
| Truncating GAS6 Variant Disrupts Neuroglial Homeostasis in a Childhood-Onset Demyelinating Disorder. | Diksha et al. | — | 2026 | → |
| Truncating Variants in KIF5C Cause a Milder Disorder Distinct From KIF5C-Associated Cortical Dysplasia. | Kulosik L et al. | — | 2026 | → |
| Tumor DNA methylation subtypes predict immunotherapy outcomes in pleural mesothelioma patients in the NIBIT-EPI-MESO study. | Calabrò L et al. | — | 2026 | → |
| Tutorial for variant interrogation in tumor samples. | Arseneau RJ et al. | — | 2026 | → |
| Two Cases of Autosomal Recessive Spinocerebellar Ataxia-8 Showing Two Novel Variants of SYNE1 in Japanese Families. | Yunoki T et al. | — | 2026 | → |
| Two lysosomal genes ATP13A2 and GBA1 interact to drive neurodegeneration. | Gu M et al. | — | 2026 | → |
| Type 2 diabetes mellitus and liver diseases: a phenome-wide Mendelian randomization atlas and genome-wide genetic correlation study. | Ding R et al. | — | 2026 | → |
| Uncovering pleiotropic loci linking keratoconus and allergic diseases through integrative genomic analyses. | Li G et al. | — | 2026 | → |
| Unraveling the genetic interplay and therapeutic potentials between major depressive disorder and metabolic syndrome: multi-ancestry and multi-trait genome-wide association analyses. | Feng Y et al. | — | 2026 | → |
| Unveiling the glymphatic system's role in brain aging: A comprehensive biomarker and modifiable intervention target. | Fang Y et al. | — | 2026 | → |
| Utilizing multimodal cortical parcellations to identify novel regions of the human cerebral cortex associated with substance use disorders. | Qiu S et al. | — | 2026 | → |
| Variants in MTNAP1 underlie a neurodegenerative disorder by impairing mitochondrial stability. | Kumar A et al. | — | 2026 | → |
| VarXOmics: A Versatile Web Server for Genomic Data Querying, Analysis, and Variant Prioritization With Multi-omics Insights. | Liao X et al. | — | 2026 | → |
| When South Meets North: A Joint Contact Zone Coinciding With Environmental Gradients in Three Boreal Tree Species. | Herrera-Egoavil P et al. | — | 2026 | → |
| Whole-Exome Profiling of Epstein-Barr Virus-Positive Neuroendocrine Carcinoma of the Nasopharynx. | Chen XC et al. | — | 2026 | → |
| Whole exome sequencing analysis of suicidal thoughts and behaviors in a veteran cohort implicates inflammatory pathways and genes previously associated with psychiatric and neurodegenerative diseases. | Garrett ME et al. | — | 2026 | → |
| Whole genome resequencing dataset of <i>Citrus maxima</i> cv. shating and its mutant clones. | Ab Razak S et al. | — | 2026 | → |
| Whole-genome resequencing datasets of four Alternaria isolates obtained from carrot seeds. | Ma Y et al. | — | 2026 | → |
| Whole-Genome Resequencing Reveals the Demographic History and Adaptive Evolution of <i>Tamarix austromongolica</i> in the Yellow River Basin. | Gong S et al. | — | 2026 | → |
| Whole-genome sequencing for the prenatal evaluation of fetal structural anomalies: a prospective multicenter study. | Gao Z et al. | — | 2026 | → |
| Whole-genome sequencing of 3135 individuals representing the genetic diversity of the Japanese population. | Higasa K et al. | — | 2026 | → |
| Whole-genome sequencing provides insights into the evolutionary adaptation and conservation of gibbons. | Wang G et al. | — | 2026 | → |
| YTHDC1-Mediated m<sup>6</sup>A Modification of MAGI3 mRNA Regulates Proliferation and Differentiation of Myoblasts. | Chen Q et al. | — | 2026 | → |
| Zooming into rearranged genome: applying pipeline of cytological, genomic, and transcriptomic methods for structural variant interpretation. | Gridina M et al. | — | 2026 | → |
| 18 individual genes underwent variant screening in a northwest Chinese group comprised 83 probands diagnosed with early-onset high myopia. | Liu Y et al. | — | 2025 | → |
| 5' UTR variant in the NDP gene leads to incorrect splicing and familial exudative vitreoretinopathy. | Liu S et al. | — | 2025 | → |
| A 261 kb deletion spanning three genes is causing Rubinstein-Taybi syndrome type 1 in a 6-year-old boy belonging to Kashmir valley, India. | Sharma R et al. | — | 2025 | → |
| A 294 kb deletion causes reduced leaflet size and biomass in pigeonpea. | Ding X et al. | — | 2025 | → |
| ABCD-type phage cocktail targeting distinct LPS receptor sites demonstrates superior efficacy against multidrug-resistant Salmonella. | Chen Y et al. | — | 2025 | → |
| Aberrant basal cell clonal dynamics shape early lung carcinogenesis. | Gómez-López S et al. | — | 2025 | → |
| A Case of a Fetus With SETD5 Mutation: Prenatal Phenotype and Literature Review. | Fan J et al. | — | 2025 | → |
| A case of familial partial lipodystrophy type 2 masquerading as Cushing syndrome: Explaining an atypical phenotype by whole-exome sequencing. | Perez-Dionisio E et al. | — | 2025 | → |
| A CGG Repeat Expansion in CSNK1E Associated with Progressive Myoclonic Epilepsy with Incomplete Penetrance. | Akçimen F et al. | — | 2025 | → |
| A clinico-genomic prognostic model for primary myelodysplastic neoplasm in Asia. | Gill H et al. | — | 2025 | → |
| A Comprehensive Analysis of Novel Variations Associated with Bile Duct Cancer: Insights into Expression, Methylation, and 3D Protein Structure. | Bülbül A et al. | — | 2025 | → |
| A comprehensive approach for identifying filaggrin mutations and copy number variants by long-read sequencing. | Yuda A et al. | — | 2025 | → |
| A comprehensive targeted panel of 295 genes: Unveiling key disease initiating and transformative biomarkers in multiple myeloma. | Ruhela V et al. | — | 2025 | → |
| A Deleterious Variant in MBOAT7 Causes Intellectual Disability in an Iranian Family: An Example of Reassignment of Variants of Uncertain Significance. | Saba N et al. | — | 2025 | → |
| Admixture's impact on Brazilian population evolution and health. | Nunes K et al. | — | 2025 | → |
| Advancing precision oncology with AI-powered genomic analysis. | Srivastava R | — | 2025 | → |
| A genetically informed brain atlas for enhancing brain imaging genomics. | Bao J et al. | — | 2025 | → |
| A genome-wide association study identifies the GPM6A locus associated with age at onset in ALS. | Nakamura R et al. | — | 2025 | → |
| A Genome-Wide Association Study of First-Episode Psychosis: A Genetic Exploration in an Italian Cohort. | Treccani M et al. | — | 2025 | → |
| A genome-wide pleiotropy study between atopic dermatitis and neuropsychiatric disorders. | Antonatos C et al. | — | 2025 | → |
| A Genomic Analysis of Usher Syndrome: Population-Scale Prevalence and Therapeutic Targets. | Redfield SE et al. | — | 2025 | → |
| A Hitchhiker's Guide to long-read genomic analysis. | Mahmoud M et al. | — | 2025 | → |
| A large-scale genome-wide association study on female genital tract polyps highlights role of DNA repair, cell proliferation, and cell growth. | Pathare ADS et al. | — | 2025 | → |
| Alignment-free unique molecular identifier clustering suppresses sequencing errors for accurate detection of low-frequency DNA variants. | Yu F et al. | — | 2025 | → |
| Allele-Specific PCR for Detection of Missense Mutations in the Chimeric <i>BCR::ABL1</i> Gene Causing Failure of Tyrosine Kinase Inhibitor Therapy in CML Patients. | Skripkina A et al. | — | 2025 | → |
| Allele-Specific Regulation of PAXIP1-AS1 by SMC3/CEBPB at rs112651172 in Psychiatric Disorders Drives Synaptic and Behavioral Dysfunctions in Mice. | Ni C et al. | — | 2025 | → |
| Allogeneic CD19-targeting T cells for treatment-refractory systemic lupus erythematosus: a phase 1 trial. | Wang X et al. | — | 2025 | → |
| Alternative splicing patterns in genetic subtypes of diffuse large B-cell lymphoma. | An S et al. | — | 2025 | → |
| A luminescent attenuated SARS-CoV-2 for the identification and validation of drug-resistant mutants. | Ma Y et al. | — | 2025 | → |
| A multimodal framework for comprehensive driver variant prediction in cancer. | Yang H et al. | — | 2025 | → |
| A multi-omics analysis of pancreatitis: bridging familial genetics and disease progression. | Li F et al. | — | 2025 | → |
| A multi-tissue atlas of allelic-specific expression reveals the characteristics, mechanisms, and relationship with dominant effects in cattle. | Li J et al. | — | 2025 | → |
| A Multitrait Analysis of Genome-Wide Association Study Reveals the Shared Genetic Architecture Between Inflammatory Bowel Disease and Ankylosing Spondylitis. | Li H et al. | — | 2025 | → |
| Analysis of copy number variations and selection signatures using whole-genome sequencing data from 16 Chinese duck breeds. | Zhang L et al. | — | 2025 | → |
| Analysis of genetic differences underlying chilling stress tolerance using whole genome Re-Sequencing in walnut (Juglans regia L.). | Liu K et al. | — | 2025 | → |
| Analysis of genetic diversity among wild soybean (Glycine soja) from Hengshui Lake in Hebei Province, China. | Wu X et al. | — | 2025 | → |
| Analysis of genetic diversity and selection signatures on the Zhashi Brown goat through whole genome sequencing data. | Li S et al. | — | 2025 | → |
| Analysis of genomic selection characteristics of local cattle breeds in Gansu. | Cai B et al. | — | 2025 | → |
| Analysis of GFAP variants in UK Biobank suggests underdiagnosis or incomplete penetrance of adult-onset Alexander disease. | Gagliardi D et al. | — | 2025 | → |
| Analysis of Inbreeding Coefficient and Genetic Diversity in Xinjiang Brown Cattle Based on Pedigree and ROH Evaluation. | Ma K et al. | — | 2025 | → |
| Analysis of insertion/deletion variation of litter size in Guizhou black goat. | Yang Y et al. | — | 2025 | → |
| Analysis of physiological and molecular mechanisms of cotton trichome aphid resistance based on SWS-1 mutant. | Li Y et al. | — | 2025 | → |
| An ancient regulatory variant of ACSF3 influences the coevolution of increased human height and basal metabolic rate via metabolic homeostasis. | Zhang Y et al. | — | 2025 | → |
| Ancestry-dependent patterns of somatic mosaicism and clonal hematopoiesis mutations in over 125,000 individuals reveal distinct cancer associations. | Colin-Leitzinger C et al. | — | 2025 | → |
| Androgen receptor promotes arachidonic acid metabolism and angiogenic microenvironment in AFP-negative hepatocellular carcinoma. | Lin Z et al. | — | 2025 | → |
| An Integrative Polygenic and Epigenetic Risk Score for Overweight-related Hypertension in Chinese Population. | Zhang 张亚宁 Y et al. | — | 2025 | → |
| An iPSC-derived CD19/BCMA CAR-NK therapy in a patient with systemic sclerosis. | Wang X et al. | — | 2025 | → |
| ANKK1, ANKRD50, GRK5, PACSIN1 and VPS8 are novel candidate genes associated with late onset Parkinson's disease: Definition of a novel predictive protocol based on polygenic model of inheritance. | Carrillo F et al. | — | 2025 | → |
| A nonsense mutation in the PRKG2 gene in dalmatian dogs with chondrodysplasia. | Mäkeläinen S et al. | — | 2025 | → |
| A novel frameshift mutation of SOX10 identified in Waardenburg syndrome type 2. | Han W et al. | — | 2025 | → |
| A Novel Homozygous Mutation in PMFBP1 Associated with Acephalic Spermatozoa Defects. | Liu C et al. | — | 2025 | → |
| A Novel KMT2E Splicing Variant as a Cause of O'Donnell-Luria-Rodan Syndrome With West Syndrome: Expansion of the Phenotype and Genotype. | Cai Q et al. | — | 2025 | → |
| A novel loss-of-function <i>SYCP2</i> variant causes asthenoteratozoospermia in infertile males. | Liu C et al. | — | 2025 | → |
| A novel missense variant at the site of interaction between RLIM and E2 ubiquitin-conjugating enzymes causes Tønne-Kalscheuer syndrome. | Siavrienė E et al. | — | 2025 | → |
| A novel mutation in CFAP58 leads to MMAF in humans and mice by disrupting CP assembly. | Abbas T et al. | — | 2025 | → |
| A novel recurrent ARL3 variant c.209G > A p.(Gly70Glu) causes variable non-syndromic dominant retinal dystrophy with defective lipidated protein transport in human retinal stem cell models. | Corral-Serrano JC et al. | — | 2025 | → |
| A novel variant in MYBPC3 causes hypertrophic cardiomyopathy by haploinsufficiency. | Zhang Y et al. | — | 2025 | → |
| A novel VPS13A mutation in an Iranian family with Chorea-Acanthocytosis. | Salmanian M et al. | — | 2025 | → |
| An Oxford Nanopore Technologies-Based Sequencing Assay for Molecular Diagnosis of Phenylketonuria and Variant Frequencies in a Turkish Cohort. | Tuncel G et al. | — | 2025 | → |
| A pancreatic cancer organoid biobank links multi-omics signatures to therapeutic response and clinical evaluation of statin combination therapy. | Li Y et al. | — | 2025 | → |
| A Patient-Derived Organoid Platform from TUR-P Samples Enables Precision Drug Screening in Advanced Prostate Cancer. | Ali ZB et al. | — | 2025 | → |
| A patient-derived T cell lymphoma biorepository uncovers pathogenetic mechanisms and host-related therapeutic vulnerabilities. | Fiore D et al. | — | 2025 | → |
| APC-related multiple salivary gland lesions: spatial transcriptomic analysis reveals progressive WNT activation. | Chan-Pak-Choon F et al. | — | 2025 | → |
| A Pedigree-Based Map of Crossovers and Noncrossovers in Aye-Ayes (Daubentonia madagascariensis). | Versoza CJ et al. | — | 2025 | → |
| A personalized metabolic modelling approach through integrated analysis of RNA-Seq-based genomic variants and gene expression levels in Alzheimer's disease. | Uzuner Odongo D et al. | — | 2025 | → |
| A Phylogenetic Analysis Based on Whole Genome Re-Sequencing of 41 <i>Dendrobium</i> Species. | Zhang FP et al. | — | 2025 | → |
| APOBEC3A drives deaminase mutagenesis in human gastric epithelium. | An Y et al. | — | 2025 | → |
| Applications for Circulating Cell-Free DNA in Oral Squamous Cell Carcinoma: A Non-Invasive Approach for Detecting Structural Variants, Fusions, and Oncoviruses. | Bhattacharya M et al. | — | 2025 | → |
| A predictive endocrine resistance index accurately stratifies luminal breast cancer treatment responders and nonresponders. | Zhang G et al. | — | 2025 | → |
| A prognostic index integrating deep learning baseline PET/CT biomarkers and multi-omics profiling in diffuse large B cell lymphoma. | Wang Y et al. | — | 2025 | → |
| A Proteogenomic View of Synchronous Endometrioid Endometrial and Ovarian Cancer. | Coscia F et al. | — | 2025 | → |
| A rare stop-gain SNP mutation in BrGL2 causes aborted trichome development in Chinese cabbage (Brassica rapa L. ssp. pekinensis). | Li B et al. | — | 2025 | → |
| Artificial chromosome reorganization reveals high plasticity of the budding and fission yeast genomes. | Zhu X et al. | — | 2025 | → |
| Assessment of peripheral blood DNA methylation signatures as pharmacodynamic and predictive biomarkers during azacitidine therapy in juvenile myelomonocytic leukaemia: Results of the EWOG-MESRAT study. | Schönung M et al. | — | 2025 | → |
| Association of APOC1 with cortical atrophy during conversion to Alzheimer's disease. | Oh S et al. | — | 2025 | → |
| Association of folate metabolism gene polymorphisms with autism susceptibility and symptom severity in the Chinese population. | Zhang CY et al. | — | 2025 | → |
| Association of heightened host and tumor immunity with prolonged duration of response to checkpoint inhibition across solid tumors. | Philips S et al. | — | 2025 | → |
| Association of Pre-Diagnostic Clonal Hematopoiesis of Indeterminate Potential With Prognosis Among Patients With Cancer. | Liu X et al. | — | 2025 | → |
| Automating ACMG variant classifications with BIAS-2015 v2.1.1: algorithm analysis and benchmark against the FDA-approved eRepo dataset. | Eisenhart C et al. | — | 2025 | → |
| Autosomal-dominant Roquin-1 immunodeficiency and hyperinflammation. | Nahum A et al. | — | 2025 | → |
| A variant in RNF212B may contribute to female infertility and recurrent pregnancy loss. | Darko ME et al. | — | 2025 | → |
| Background Mutation Frequencies in TK6 and L5178Y Cells: Implications for Error-Corrected Sequencing. | Miranda JA et al. | — | 2025 | → |
| BATF2 is a glutamine-responsive tumour suppressor required for type-I interferon-dependent anti-tumour immunity. | Gong W et al. | — | 2025 | → |
| Benchmarking mouse contamination removing protocols in patient-derived xenografts genomic profiling. | Bhandari M et al. | — | 2025 | → |
| Benchmarking Nanopore Sequencing for CLN2 (TPP1) Mutation Detection: Integrating Rapid Genomics and Orthogonal Validation for Precision Diagnostics. | Teker B et al. | — | 2025 | → |
| Beyond volume: Unraveling the genetics of human brain geometry. | Primus SA et al. | — | 2025 | → |
| Biallelic BRF2 mutations disrupt redox homeostasis as etiological factors in syndromic immunodeficiency and developmental disorders. | Yoon S et al. | — | 2025 | → |
| Bi-Allelic Loss-of-Function Variant in MAN1B1 Cause Rafiq Syndrome and Developmental Delay. | Zang L et al. | — | 2025 | → |
| Biallelic variants in DNAJC7 cause familial amyotrophic lateral sclerosis with the TDP-43 pathology. | Yamashita T et al. | — | 2025 | → |
| Biobank-scale genetic characterization of Alzheimer's disease and related dementias across diverse ancestries. | Khani M et al. | — | 2025 | → |
| Boost or Bust? The Impact of Supplementation on Functional Genetic Diversity and Selective Processes in Tasmanian Devils. | Schraven AL et al. | — | 2025 | → |
| Broadening the ARMC2 mutational phenotype: linking multiple morphological abnormalities of the Flagella to Pulmonary Manifestations in Primary Ciliary Dyskinesia. | Wu B et al. | — | 2025 | → |
| BSA-seq and transcriptome analysis identification candidate genes associated with Pseudomonas plecoglossicida resistance in the large yellow croaker (Larimichthyscrocea). | Ye T et al. | — | 2025 | → |
| CaMutQC: An R package for integrative quality control and filtration of cancer somatic mutations. | Wang X et al. | — | 2025 | → |
| CanASM: a comprehensive database for genome-wide allele-specific DNA methylation identification and annotation in cancer. | Zhao J et al. | — | 2025 | → |
| Can classical statistics and deep learning converge on explainable, causally driven target discovery? | Chen L | — | 2025 | → |
| Case Report: Decoding genetic risks of vascular parkinsonism: a case series. | Shalash A et al. | — | 2025 | → |
| Case report: Persistent COVID-19 in a patient with B cell lymphoma refractory to antiviral treatment due to resistance to Remdesivir. | de Assumpção LECC et al. | — | 2025 | → |
| Causal Relationship Between Blood Metabolites and Prostate Cancer Risk: A Two-Sample Mendelian Randomization Study. | Liu S et al. | — | 2025 | → |
| CD103<sup>+</sup> T Cells Eliminate Damaged Alveolar Epithelial Type II Cells Under Oxidative Stress to Prevent Lung Tumorigenesis. | Xu Y et al. | — | 2025 | → |
| CDKN2A alternations in non-small cell lung cancer: An evaluation using next-generation sequencing. | Feng X et al. | — | 2025 | → |
| Cellulose microfiber-mediated mesoscale architecture promotes the expansion of patient-derived lung cancer organoids while preserving their malignant characteristics. | Zhou C et al. | — | 2025 | → |
| Challenges and Opportunities in Characterizing the Genetics of Stuttering: From Sample Acquisition to Functional Interpretation of the Genome. | Pruett DG et al. | — | 2025 | → |
| Characterization of Extrachromosomal Circular DNA in Primary and Cisplatin-Resistant High-Grade Serous Ovarian Cancer. | Wang Y et al. | — | 2025 | → |
| Characterization of the genetic and clinical landscapes of DCTN1 gene in neurodegenerative diseases: a series of large case-control study. | Hou X et al. | — | 2025 | → |
| Characterization of the Subclinical Perilesional Zone in the Macula of Early-Stage ABCA4 Disease. | Zee A et al. | — | 2025 | → |
| Chromosome-level genome assembly of Jiaobai (Zizania latifolia, Poceace). | Huang Y et al. | — | 2025 | → |
| Chromosome-level genome assembly of the autotetraploid yellow pitaya provides novel insights into evolution of trait patterning in pitaya species with different ploidy. | Zaman QU et al. | — | 2025 | → |
| Clinical and molecular implications of sex differences in surgically treated early-onset gastric cancer. | Li B et al. | — | 2025 | → |
| Clinical and Molecular Landscape of GLRA2 in X-Linked Early-Onset High Myopia. | Li X et al. | — | 2025 | → |
| Clinical characteristics and induced pluripotent stem cells (iPSCs) disease model of Harel-Yoon syndrome caused by compound heterozygous ATAD3A variants. | Jiang Z et al. | — | 2025 | → |
| Clinical characteristics of EYS-associated retinal dystrophy in 291 Japanese patients. | Koyanagi Y et al. | — | 2025 | → |
| Clinical-Genetic Approach to Conditions with Macrocephaly and ASD/Behaviour Abnormalities: Variants in <i>PTEN</i> and <i>PPP2R5D</i> Are the Most Recurrent Gene Mutations in a Patient-Oriented Diagnostic Strategy. | L'Erario FF et al. | — | 2025 | → |
| Clinical Impact and Genomic Features of Human Epidermal Growth Factor Receptor 2-Low Tumors in <i>BRCA1/2</i>-Mutated Triple-Negative Breast Cancer. | Kou F et al. | — | 2025 | → |
| Clinically Actionable Hypertrophic Cardiomyopathy Genes in South Asian Indian Patients. | Rao VJ et al. | — | 2025 | → |
| Clinical response to azacitidine in MDS is associated with distinct DNA methylation changes in HSPCs. | Thoms JAI et al. | — | 2025 | → |
| Clinical use of whole-genome sequencing in children with developmental delay or intellectual disability. | Xu J et al. | — | 2025 | → |
| Clinicopathological features and genetic mutation spectrum of primary anastomosing hemangioma arising from the kidney. | Zhang L et al. | — | 2025 | → |
| Clinicopathologic, Cellular, and Molecular Analyses of Pulmonary Neuroendocrine Carcinoma With High Expression of Hepatocyte Nuclear Factor 4 Alpha. | Asayama K et al. | — | 2025 | → |
| Clonal Hematopoiesis and Cardiovascular Outcomes in Older Women. | Ezzat D et al. | — | 2025 | → |
| Clonal hematopoiesis in apparent treatment-resistant hypertension, insights from multiple medical centers and community-based cohorts. | Lv C et al. | — | 2025 | → |
| Clonal hematopoiesis in metastatic urothelial and renal cell carcinoma. | Munzur AD et al. | — | 2025 | → |
| Clonal hematopoiesis is associated with distinct rheumatoid arthritis phenotypes. | Hiitola E et al. | — | 2025 | → |
| Clonal hematopoiesis of indeterminate potential and risk of autoimmune thyroid disease. | Zhang X et al. | — | 2025 | → |
| Clonal hematopoiesis of indeterminate potential and risk of immune thrombocytopenia. | Liu Q et al. | — | 2025 | → |
| Clonal hematopoiesis of indeterminate potential and risk of incident Crohn's disease-a prospective cohort study. | Wang Y et al. | — | 2025 | → |
| Clonal Hematopoietic Mutations in Plasma Cell Disorders: Clinical Subgroups and Shared Pathogenesis. | Wang X et al. | — | 2025 | → |
| CluVar: clustering of variants using autoencoder for inferring cancer subclones from single cell RNA sequencing data. | Kim CW et al. | — | 2025 | → |
| Coalescing single-cell genomes and transcriptomes to decode breast cancer progression. | Wang K et al. | — | 2025 | → |
| Coding and regulatory somatic profiling of triple-negative breast cancer in Sub-Saharan African patients. | Pinto RJ et al. | — | 2025 | → |
| Co-domestication of cold tolerance and female flower is determined by CsEIN2 in cucumber. | Li C et al. | — | 2025 | → |
| Combination of 3D chromatin architecture and omics analysis provides insight into anthocyanin regulation in <i>Actinidia arguta</i>. | Li Y et al. | — | 2025 | → |
| Combined genome and transcriptome analysis identifies molecular signatures of aortic disease in patients with Marfan syndrome. | Stanley KB et al. | — | 2025 | → |
| Combined MEK and PARP inhibition enhances radiation response in rectal cancer. | Xiao Q et al. | — | 2025 | → |
| Combined therapy with DR5-targeting antibody-drug conjugate and CDK inhibitors as a strategy for advanced colorectal cancer. | Zhou D et al. | — | 2025 | → |
| Combining chromosome conformation capture and exome sequencing for simultaneous detection of structural and single-nucleotide variants. | Gridina M et al. | — | 2025 | → |
| Combining re-evaluation and new exome sequencing to identify novel genetic variants and candidate genes in Iranian families with non-syndromic hearing loss. | Rezvandeh RR et al. | — | 2025 | → |
| Commander complex regulates lysosomal function and is implicated in Parkinson's disease risk. | Minakaki G et al. | — | 2025 | → |
| Common <i>cis</i>-regulatory variation modifies the penetrance of pathogenic <i>SHROOM3</i> variants in craniofacial microsomia. | Zhu H et al. | — | 2025 | → |
| Comparative analysis of multiple hybrid zones of <i>Rhododendron</i> × <i>duclouxii</i> uncovered different potential evolutionary outcomes. | Zheng W et al. | — | 2025 | → |
| Comparative Analysis of Somatic and Germline Polymerase Proofreading Deficiencies in Cancer: Molecular and Clinical Implications. | Viana-Errasti J et al. | — | 2025 | → |
| Comparative genomic analysis of Acer tsinglingense and A. davidii provides insights into nervonic acid biosynthesis, population evolution and genome vulnerability of endangered A. tsinglingense. | Meng X et al. | — | 2025 | → |
| Comparative outcome and prognostic factor analysis among MDS/AML patients with TP53 mutations, snps, and wild type. | Yang X et al. | — | 2025 | → |
| Comparative transcriptome analysis for identifying genes involved in reproduction of banana shrimp (Penaeus merguiensis). | Bunphimpapha P et al. | — | 2025 | → |
| Comparative transcriptome profiling reveals molecular mechanisms of freezing stress responses in cultivated and wild Cicer species. | Bakır M et al. | — | 2025 | → |
| Comparison of epigenetic differences in genomes of cloned cattle from different donor cell sources. | Sheng M et al. | — | 2025 | → |
| Comprehensive Analysis of <i>Ghd7</i> Variations Using Pan-Genomics and Prime Editing in Rice. | Wang J et al. | — | 2025 | → |
| Comprehensive genetic and epigenetic characterization of Lynch-like syndrome patients. | Pirini F et al. | — | 2025 | → |
| Comprehensive genetic profiling of sensorineural hearing loss using an integrative diagnostic approach. | Lee SY et al. | — | 2025 | → |
| Comprehensive genetic screening of 70 severe adolescent idiopathic scoliosis probands reveals novel pathogenic variants and syndromic associations. | Horbacz M et al. | — | 2025 | → |
| Comprehensive Genome-Wide Analysis of Shared Genetic Factors in Gastrointestinal and Neurodegenerative Diseases. | Jiang Y et al. | — | 2025 | → |
| Comprehensive genomic and transcriptomic analyses reveal prognostic stratification for esophageal squamous cell carcinoma. | Gao J et al. | — | 2025 | → |
| Computational methods and data resources for predicting tumor neoantigens. | Zhao X et al. | — | 2025 | → |
| Concurrent inheritance of achromatopsia and MMAT syndrome in a pedigree: Genetic and clinical insights. | Aghasipour M et al. | — | 2025 | → |
| Contribution of leukocyte telomere length to cardiovascular disease onset from genome-wide cross-trait analysis. | Qiao J et al. | — | 2025 | → |
| Convergent Genetic Architecture in Concurrent Anorectal Malformations and Hypospadias: The <i>ESRRA-STARD8</i> Axis as a Key Regulator of Urogenital Development. | Goswami C et al. | — | 2025 | → |
| Cooperative role of distinctive TP53 and PTEN combined loss in the peripheral T cell lymphoma-GATA3 molecular subgroup. | Lone WG et al. | — | 2025 | → |
| Copy Number Variants of Uncertain Significance by Chromosome Microarray Analysis from Consecutive Pediatric Patients: Reevaluation Following Current Guidelines and Reanalysis by Genome Sequencing. | Li W et al. | — | 2025 | → |
| ctDNA detects residual disease after neoadjuvant chemoradiotherapy and guides adjuvant therapy in esophageal squamous cell carcinoma. | Liu Z et al. | — | 2025 | → |
| C to U RNA editing of MFN1 is regulated by ADARB1 and associates with favourable prognosis in chronic lymphocytic leukemia. | Gonzalez Martinez A et al. | — | 2025 | → |
| Current Bioinformatics Tools in Precision Oncology. | Wolde T et al. | — | 2025 | → |
| Deciphering genetic adaptations of Old World camels through comparative genomic analyses across all camelid species. | Guo X et al. | — | 2025 | → |
| Deciphering the m6A Epitranscriptomic Landscape of mRNAs in Breast Cancer Cells. | Athanasopoulou K et al. | — | 2025 | → |
| Deciphering the regulatory network of carbon isotope discrimination in bread wheat through genome-wide association studies and genomic prediction. | Dong Q et al. | — | 2025 | → |
| Deciphering the regulatory network of lignocellulose biosynthesis in bread wheat through genome-wide association studies. | Dong Q et al. | — | 2025 | → |
| Deep-embedded clustering by relevant scales and genome-wide association study in autism. | Ueno F et al. | — | 2025 | → |
| Deep learning algorithms reveal genomic markers for anxiety disorder in a large cohort of children with down syndrome. | Liu Y et al. | — | 2025 | → |
| DeepMVP: deep learning models trained on high-quality data accurately predict PTM sites and variant-induced alterations. | Wen B et al. | — | 2025 | → |
| DEFGermplasm: a comprehensive digital platform for forest genomic and phenotype data integration. | Du M et al. | — | 2025 | → |
| Deficiency in DNAH12 causes male infertility by impairing DNAH1 and DNALI1 recruitment in humans and mice. | Yang M et al. | — | 2025 | → |
| Deleterious variants in LTBP4 are associated with severe pediatric sepsis. | Qin Y et al. | — | 2025 | → |
| DelSIEVE: cell phylogeny modeling of single nucleotide variants and deletions from single-cell DNA sequencing data. | Kang S et al. | — | 2025 | → |
| Demography and adaptation of a species specific pollinator associated with an invasive fig tree. | Wu LH et al. | — | 2025 | → |
| De Novo Detection of Clonal Structure and Evolution in Single-Cell and Spatial Transcriptomes. | Bai S et al. | — | 2025 | → |
| De novo detection of somatic variants in high-quality long-read single-cell RNA sequencing data. | Dondi A et al. | — | 2025 | → |
| De Novo Variant in GBX1 Gene Associated With Developmental Delay and Focal Epilepsy. | Zhang B et al. | — | 2025 | → |
| De novo variants disrupt an LDB1-regulated transcriptional network in congenital ventriculomegaly. | Allington G et al. | — | 2025 | → |
| Design and verification of a 25 K multiple-SNP liquid-capture chip by target sequencing for dairy goat. | Zhao J et al. | — | 2025 | → |
| Design, validation, and application of a 1K liquid chip for genome-wide association analysis in Alpine Merino sheep. | Guo T et al. | — | 2025 | → |
| Detecting and quantifying clonal selection in somatic stem cells. | Körber V et al. | — | 2025 | → |
| Development and Application of MiMouse, a Comprehensive Genomic Profiling Panel for Credentialing Mouse Tumor Models. | Hu K et al. | — | 2025 | → |
| Development and extensive sequencing of a broadly-consented Genome in a Bottle matched tumor-normal pair. | McDaniel JH et al. | — | 2025 | → |
| Development and validation of a carnitine cycle and transport disorders (CCD) panel: an ONT-compatible multi-gene diagnostic kit for newborn and selective screening. | Akan G et al. | — | 2025 | → |
| Development and validation of machine learning models based on molecular features for estimating the probability of multiple primary lung carcinoma versus intrapulmonary metastasis in patients presenting multiple non-small cell lung cancers. | Liu N et al. | — | 2025 | → |
| Development of a 5K Liquid-Phase Genome-Wide Breeding Chip for Xinglong Buffalo. | Jiao Y et al. | — | 2025 | → |
| Diagnostic utility of whole exome sequencing in pediatric and adult patients with suspected monogenic chronic kidney disease. | Amr KS et al. | — | 2025 | → |
| Diagnostic Yield and Genetic Burden Analysis of Frequently Mutated Genes in Progressive Ataxia. | Sharma P et al. | — | 2025 | → |
| Differences in virulence and drug resistance between <i>Clostridioides difficile</i> ST37 and ST1 isolates. | Ouyang Z et al. | — | 2025 | → |
| DiffInvex identifies evolutionary shifts in driver gene repertoires during tumorigenesis and chemotherapy. | Khalil A et al. | — | 2025 | → |
| Discovery of <i>ETS1</i> as a New Gene Predisposing to Dilated Cardiomyopathy. | Ke ZP et al. | — | 2025 | → |
| Disease penetrance and phenotypic spectrum of desmoplakin variant carriers in the population. | Gurumoorthi M et al. | — | 2025 | → |
| Dissecting the tumor microenvironment in primary breast angiosarcoma: insights from single-cell RNA sequencing. | Ding P et al. | — | 2025 | → |
| Dissection of genomic drivers of spike morphology changes in wheat by high-throughput phenotyping. | Shen K et al. | — | 2025 | → |
| Distinct and convergent effects of <i>SF3B1</i> mutations in human breast cancer. | Bergman RE et al. | — | 2025 | → |
| Distinct genetic alterations in CD10-negative MUM1-positive follicular lymphoma. | Yang Y et al. | — | 2025 | → |
| Distinct pathways for genetic and epigenetic predisposition in familial and bilateral Wilms tumor. | Wegert J et al. | — | 2025 | → |
| Divergent accumulation patterns of SNVs and INDELs reveal negative selection in noncancerous cells. | Zhang L et al. | — | 2025 | → |
| Diverse short tandem repeat sequences influence gene regulation in human populations. | Mitina A et al. | — | 2025 | → |
| Diverse somatic genomic alterations in single neurons in chronic traumatic encephalopathy. | Dong G et al. | — | 2025 | → |
| DLK1 Distinguishes Subsets of NF1-Associated Malignant Peripheral Nerve Sheath Tumors with Divergent Molecular Signatures. | Mitchell DK et al. | — | 2025 | → |
| DNA methylation predicts adverse outcomes of coronary artery disease. | Qin M et al. | — | 2025 | → |
| Doubled Genomes, Divergent Fates: Genomic Insights Into Diversification in an Allotetraploid Cavefish. | Montero-Mendieta S et al. | — | 2025 | → |
| DPE1, a novel allelic of BT1, is critical for maize endosperm development and carbohydrate metabolism. | Wang S et al. | — | 2025 | → |
| Dynamic clustering of genomics cohorts beyond race, ethnicity-and ancestry. | Mohsen H et al. | — | 2025 | → |
| Dynamics of N<sup>6</sup>-methyladenosine (m6A) under salt stress in poplar and the intrinsic mechanism by which METTL4 (PagMTC) enhances salt tolerance. | Wang R et al. | — | 2025 | → |
| Easy-PSAP: An Integrated Workflow to Prioritize Pathogenic Variants in Sequence Data from a Single Individual. | Ogloblinsky MC et al. | — | 2025 | → |
| EBF3-related neurodevelopment disorder affecting an individual of Singaporean Arab and Malay origin: case report and review of the literature. | Ramalingam CG et al. | — | 2025 | → |
| Effect of using preselected markers from imputed whole-genome sequence for genomic prediction in Angus cattle. | Kamprasert N et al. | — | 2025 | → |
| Efficacy, Safety, and Biomarkers of Neoadjuvant Dalpiciclib (CDK4/6 inhibitor) plus Aromatase Inhibitors in Operable HER2-Negative Luminal B Breast Cancer: A Prospective, Single-Center, Single-Arm, Phase II Trial (DANCER). | Zhou Y et al. | — | 2025 | → |
| Emergence and characterization of mixed Candida auris strain infections in China. | Du H et al. | — | 2025 | → |
| Encoding and decoding selectivity and promiscuity in the human chemokine-GPCR interaction network. | Kleist AB et al. | — | 2025 | → |
| Ending diagnostic odyssey by reanalysis of whole exome sequencing data: reclassification of suspected Fanconi anemia cases to dyskeratosis congenita and Diamond-Blackfan anemia. | Tejero E et al. | — | 2025 | → |
| Epigenome-wide DNA methylation profiling reveals risk genes for migraine and its subtypes. | Liu M et al. | — | 2025 | → |
| Epistasis regulates genetic control of cardiac hypertrophy. | Wang Q et al. | — | 2025 | → |
| ERBB2/HER2 Alterations in ctDNA and Metachronous Tissues of Patients with Metastatic Urothelial Cancer. | Vandekerkhove G et al. | — | 2025 | → |
| ESR1 Variants and Subcontinental Genomic Ancestry: Insights from the 1000 Genomes Project and Native American Populations. | Scudeler MM et al. | — | 2025 | → |
| Established Cancer Predisposition Genes in Single and Multiple Cancer Diagnoses. | Shevach JW et al. | — | 2025 | → |
| Establishment and characterization of novel cancer cachexia-inducing cell line, Aku60GC, of scirrhous gastric cancer. | Noguchi R et al. | — | 2025 | → |
| Evaluating sensitivity of NGS-based mutation detection across diverse sample types in prostate cancer. | Jiang K et al. | — | 2025 | → |
| Evaluating variant pathogenicity prediction tools to establish African inclusive guidelines for germline genetic testing. | Zhou K et al. | — | 2025 | → |
| Evaluation of genetic diversity and selection signals in gayal populations across four countries through whole-genome resequencing. | Liu X et al. | — | 2025 | → |
| Evidence for the Pathogenicity of a <i>CFH</i> Variant in a Multigenerational Family with Cuticular Drusen. | Preiksaitiene E et al. | — | 2025 | → |
| Evidence of long-term purging of mutation burden in killer whale Orcinus orca genomes. | Foote AD et al. | — | 2025 | → |
| Evidence of mutations in tumour suppressor genes among oral cancer in Naswar, smokeless tobacco users. | Iqbal F et al. | — | 2025 | → |
| Evolutionary and immune microenvironment dynamics during neoadjuvant treatment of esophageal adenocarcinoma. | Barroux M et al. | — | 2025 | → |
| Evolutionary conservation and enhanced basal immunity of the ZmNBS gene family in maize. | Xu Z et al. | — | 2025 | → |
| Exome and transcriptome analysis link calcium channel pathway aberrations to botulinum toxin A resistance in Hailey-Hailey disease. | Yuan Y et al. | — | 2025 | → |
| Exome sequencing identifies novel genetic variants in patients with atypical Non-Syndromic retinitis pigmentosa. | Yesharim L et al. | — | 2025 | → |
| Exome sequencing revealed a novel homozygous variant in TRMT61 A in a multiplex family with atypical Cornelia de Lange Syndrome from Rwanda. | Uwibambe E et al. | — | 2025 | → |
| Exome sequencing reveals low-frequency and rare variant contributions to multiple sclerosis susceptibility in Turkish families. | Büyükgöl F et al. | — | 2025 | → |
| Exome sequencing uncovers promising candidate genes for foetal structural malformations. | Sudhakar DV et al. | — | 2025 | → |
| Exome-wide association study of bleeding events in patients receiving direct oral anticoagulants. | Sychev DA et al. | — | 2025 | → |
| Exonic Variation and Its Clinical Impact in 7221 Old Order Amish. | Mitchell BD et al. | — | 2025 | → |
| Explainable deep learning for stratified medicine in inflammatory bowel disease. | Verplaetse N et al. | — | 2025 | → |
| Exploring gene-phenotype relationships in GRIN-related neurodevelopmental disorders. | Cha JH et al. | — | 2025 | → |
| Exploring genotype-phenotype correlations in pathological myopia: a case report. | Kong Q et al. | — | 2025 | → |
| Exploring pharmacogenetic factors influencing hydroxyurea response in tanzanian sickle cell disease patients: a genomic medicine approach. | Nkya S et al. | — | 2025 | → |
| Exploring the Genetic Underpinnings of Diffusion Tensor Image Analysis Along the Perivascular Space: A Genome-Wide Correlation Study and Implications for Brain Health. | Wu J et al. | — | 2025 | → |
| Exploring the shared genetic architecture between testosterone traits and major depressive disorder. | Lu W et al. | — | 2025 | → |
| Explosive tumor growth in a patient with colon cancer is associated with reduced neoantigen levels and decreased interferon-gamma (IFN-γ) signaling. | Wang Y et al. | — | 2025 | → |
| Expression of kinetochore component NDC80 promotes esophageal squamous cell carcinoma cells proliferation and migration. | Shi Y et al. | — | 2025 | → |
| Extremely early genomic events and temporal order of esophageal squamous cell carcinogenesis: Longitudinal self-comparison of progressors and non-progressors. | Liu Y et al. | — | 2025 | → |
| FGFR1-related congenital hypogonadotropic hypogonadism: a case report and literature review. | Sun M et al. | — | 2025 | → |
| Fine mapping genetic variants affecting birth weight in sheep: a GWAS of 3007 individuals using low-coverage whole genome sequencing. | Li R et al. | — | 2025 | → |
| First clinical report of a rare PDZD7 nonsense variant and recurrent mutations in Iranian families with autosomal recessive non-syndromic hearing loss. | Ghasemi H et al. | — | 2025 | → |
| First-line serplulimab plus chemotherapy in extensive-stage small-cell lung cancer: Updated results and biomarker analysis from the ASTRUM-005 randomized clinical trial. | Cheng Y et al. | — | 2025 | → |
| First Middle East and North Africa report of an EPCAM-MSH2 deletion in two Iranian Lynch syndrome families: a case report. | Sina M et al. | — | 2025 | → |
| From North Asia to South America: Tracing the longest human migration through genomic sequencing. | Gusareva ES et al. | — | 2025 | → |
| From Rare to Common: Genetic Insights into TLR7 Variants in a Multicentric Spanish Study on COVID-19 Severity. | Antolí A et al. | — | 2025 | → |
| Functional analysis of a novel FOXL2 mutation in blepharophimosis, ptosis, and epicanthus inversus syndrome type II and elucidation of the genotype-phenotype correlation. | Shen B et al. | — | 2025 | → |
| Functional analysis of novel MMP21 gene compound heterozygous mutations in a prenatal case with heterotaxy. | Chen Q et al. | — | 2025 | → |
| Functional genomics reveals adipose-kidney crosstalk as a contributor to kidney fibrosis via the OSM-OSMR pathway. | Zhang J et al. | — | 2025 | → |
| Functional identification of two variants in unrelated Chinese patients with DNM1L-related mitochondrial disorders. | Zhang Z et al. | — | 2025 | → |
| Functional interrogation of cellular Lp(a) uptake by genome-scale CRISPR screening. | Khan TG et al. | — | 2025 | → |
| Functionally enriched human polymorphisms associate to species in the chronic wound microbiome. | Gabrilska RA et al. | — | 2025 | → |
| Functional screening of somatic mutant events in extranodal natural killer/T-cell lymphoma with adrenal involvement. | Zhang L et al. | — | 2025 | → |
| Functional synapses between neurons and small cell lung cancer. | Sakthivelu V et al. | — | 2025 | → |
| Gain of Alternative Allele Expression of LINC02449 at rs149707223 in Schizophrenia and Bipolar Disorder: Inducing Synaptic Transmission and Behavioral Deficits in Mice. | Yang T et al. | — | 2025 | → |
| Gastroesophageal circulating tumor cell crosstalk with peripheral immune system guides CTC survival and proliferation. | Rossi T et al. | — | 2025 | → |
| Gene-Based Burden Testing of Rare Variants in Hemiplegic Migraine: A Computational Approach to Uncover the Genetic Architecture of a Rare Brain Disorder. | Alfayyadh MM et al. | — | 2025 | → |
| geneEX: An Integrated Phenotype-Driven Algorithm for Rapid Identification of Causative Variants in Monogenic Disorders. | Zhang J et al. | — | 2025 | → |
| Genetic and neural mechanisms shared by schizophrenia and depression. | Xie Y et al. | — | 2025 | → |
| Genetic basis and origin of coat color in Leiqiong cattle. | Luo FN et al. | — | 2025 | → |
| Genetic Basis of Low-Salinity Tolerance in the Pacific Oyster (Crassostrea gigas) as Revealed by Estimation of Genetic Parameters and Genome-Wide Association Study. | Han X et al. | — | 2025 | → |
| Genetic characteristics associated with isolated Microtia revealed through whole exome sequencing of 201 pedigrees. | Wu S et al. | — | 2025 | → |
| Genetic Characterization of 128 Chinese Individuals with Neurodevelopmental Disorders via Whole-Exome Sequencing. | Qin Y et al. | — | 2025 | → |
| Genetic characterization of Lynch syndrome germline variants in a LATAM cohort using a customized NGS gene panel. | Mathó C et al. | — | 2025 | → |
| Genetic Characterization of MODY in Iranian Families Using Multigenerational-Based Whole-Exome Sequencing Approach. | Sefid F et al. | — | 2025 | → |
| Genetic data normalization for genomic medicine: a Fast Healthcare Interoperability Resources Genomics reference implementation. | Dolin RH et al. | — | 2025 | → |
| Genetic determinants of gene expression noise and its role in complex trait variation. | Long Y et al. | — | 2025 | → |
| Genetic diagnosis of three intellectually disabled individuals in a pedigree and insights into fragile X syndrome diagnosis. | Huang J et al. | — | 2025 | → |
| Genetic differences between diagnosed and undiagnosed Celiac disease: a population-based study. | Alam MS et al. | — | 2025 | → |
| Genetic differentiation and adaptive evolution of buff-tailed bumblebees in Asia. | Su L et al. | — | 2025 | → |
| Genetic dissection of hundred-kernel weight through combined genome-wide association study and linkage analysis in tropical maize. | Shi M et al. | — | 2025 | → |
| Genetic dissection of maize grain moisture content and dehydration rate using high-density bin mapping in a recombinant inbred line population. | Zhang J et al. | — | 2025 | → |
| Genetic dissection of two elite japonica varieties reveals founder transmission and selection in breeding. | Ye J et al. | — | 2025 | → |
| Genetic Diversity and Core Germplasm Identification in <i>Penaeus japonicus</i> Using Whole-Genome Resequencing. | Zhang D et al. | — | 2025 | → |
| Genetic etiology of 283 Chinese individuals with epilepsy using copy number variation sequencing and whole exome sequencing: a single-center cohort study. | Hu J et al. | — | 2025 | → |
| Genetic fine-mapping of body weight and size traits at 120 days of age in Lion-head geese. | Huang Z et al. | — | 2025 | → |
| Genetic heterogeneity and key driver mutations in the preneoplastic and earliest stages of gastric cancer. | Marroquín-Estrada EA et al. | — | 2025 | → |
| Genetic Insights into Head-to-Body Ratios Via Deep Learning-Based Image Segmentation and Implications for Common Diseases. | Shi W et al. | — | 2025 | → |
| Genetic Interplay Between Attention-Deficit/Hyperactivity Disorder and Pain Suggests Neurodevelopmental Pathways and Comorbidity Risk. | Ciochetti NP et al. | — | 2025 | → |
| Genetic Investigation of Inherited Variants in a Multiplex Autism Spectrum Disorder (ASD) Family Using Whole-Genome Sequencing (WGS). | Gholizadeh MA et al. | — | 2025 | → |
| Genetic landscape of primary ovarian insufficiency in Bangladeshi women through whole exome sequencing. | Pervin HH et al. | — | 2025 | → |
| Genetic modifiers and ascertainment drive variable expressivity of complex disorders. | Jensen M et al. | — | 2025 | → |
| Genetic modifiers of response to thalidomide in transfusion-dependent beta-thalassemia patients: a whole-exome sequence analysis. | Bawazir WM et al. | — | 2025 | → |
| Genetic mutations in lymphocytic variant of hypereosinophilic syndrome: study of five siblings. | Walkenhorst M et al. | — | 2025 | → |
| Genetic regulation of the metabolome differs by sex, Alzheimer's disease stage, and plasma biomarker status. | Eissman JM et al. | — | 2025 | → |
| Genetic relationship between epilepsy and mental disorders: A comprehensive GWAS analysis. | Abudusalamu R et al. | — | 2025 | → |
| Genetic requirement for Esrp1 and Esrp2 in vertebrate pituitary morphogenesis. | Carroll SH et al. | — | 2025 | → |
| Genetic risk and plasma biomarkers of dementia with Lewy bodies in a Chinese population. | Hao X et al. | — | 2025 | → |
| Genetic Screening of a Nonsyndromic Amelogenesis Imperfecta Patient Cohort Using a Custom smMIP Reagent for Selective Enrichment of Target Loci. | Hany U et al. | — | 2025 | → |
| Genetic spectrum of congenital cataract with optional ocular and multisystem abnormalities. | Zhang H et al. | — | 2025 | → |
| Genetic structure analysis and core germplasm construction of Robinia pseudoacacia and its closely related species based on SNP. | Wang H et al. | — | 2025 | → |
| Genetic Subtype-Based International Prognostic Index Prognostic Model in Diffuse Large B-Cell Lymphoma. | Mi L et al. | — | 2025 | → |
| Genetic susceptibility and environmental risk factors in bladder cancer: Evidence from the UK biobank. | Bukavina L et al. | — | 2025 | → |
| Genetic Trends in General Combining Ability for Maize Yield-Related Traits in Northeast China. | Wang H et al. | — | 2025 | → |
| Genetic variants in HELB contribute to premature ovarian insufficiency and early age of natural menopause. | Pan Y et al. | — | 2025 | → |
| Genetic Variation in the Alternative Complement Pathway Contributes to Individual Susceptibility to Bacteremia and Sepsis. | Inman K et al. | — | 2025 | → |
| Genetic variations and recurrence in stage III Korean colorectal cancer: Insights from tumor-only mutation analysis. | Jeon H et al. | — | 2025 | → |
| GenMasterTable: a user-friendly desktop application for filtering, summarising, and visualising large-scale annotated genetic variants. | Zhai J et al. | — | 2025 | → |
| Genome assembly and comparative analysis reveal the imbalanced subgenomes divergence and evolutionary history of Juglans cathayensis. | Xu H et al. | — | 2025 | → |
| Genome of Kumamoto Oyster <i>Crassostrea sikamea</i> Provides Insights Into Bivalve Evolution and Environmental Adaptation. | Liu S et al. | — | 2025 | → |
| Genome region aware CADD thresholds for noncoding variant prioritization. | Tenywa JF et al. | — | 2025 | → |
| Genome-wide analysis of brain age identifies 59 associated loci and unveils relationships with mental and physical health. | Jawinski P et al. | — | 2025 | → |
| Genome-Wide Analysis of Copy Number Variations in Three Populations of Nanyang Cattle Using Whole-Genome Resequencing. | Dang D et al. | — | 2025 | → |
| Genome-wide analysis of genetic diversity and selection signatures in Fuzhou cattle. | Wang N et al. | — | 2025 | → |
| Genome-wide association analysis and gene mining of flavonoids in Xanthoceras sorbifolia. | Huo Y et al. | — | 2025 | → |
| Genome-Wide Association Analysis of Sweet Pepper (<i>Capsicum annuum</i>) Based on Agronomic Traits Using PepperSNP50K. | Wang Y et al. | — | 2025 | → |
| Genome-wide association analysis study and genomic prediction for resistance to soybean mosaic virus in soybean population. | Zhao T et al. | — | 2025 | → |
| Genome-wide association and DNA methylation analyses of SSRI treatment response in major depressive disorder. | Lyu N et al. | — | 2025 | → |
| Genome-wide association for sarcoidosis identifies novel risk loci and genetic heritability in African and European ancestries: a meta-analysis from the Finngen, Million Veteran Program, UK Biobank, and Biobank Japan datasets. | Ricci A et al. | — | 2025 | → |
| Genome-wide associations spanning 194 in-hospital drug dosage change phenotypes highlight diverse genetic backgrounds in concurrent drug therapy. | Henriksen AP et al. | — | 2025 | → |
| Genome-wide association study and molecular marker development for resistance to soybean cyst nematode in soybean. | Qu S et al. | — | 2025 | → |
| Genome-Wide Association Study and Rare Variant Association Studies of Strabismus in the <i>All of Us</i> Research Program. | Lee KAV et al. | — | 2025 | → |
| Genome-wide association study and transcriptomic analysis reveal the crucial role of <i>sting1</i> in resistance to visceral white-nodules disease in <i>Larimichthys polyactis</i>. | Zhu J et al. | — | 2025 | → |
| Genome-Wide Association Study Dissects the Genetic Architecture of Pericarp Traits in Fresh-Eating Maize. | Jin Y et al. | — | 2025 | → |
| Genome-wide association study identifies elite alleles of FLA2 and FLA9 controlling flag leaf angle in rice. | Li T et al. | — | 2025 | → |
| Genome-wide association study identifying immune markers in Qingyuan partridge chickens infected with avian Leukosis virus subgroup J. | Jie H et al. | — | 2025 | → |
| Genome-Wide Association Study of Body Size Traits in Luning Chickens Using Whole-Genome Sequencing. | Li Z et al. | — | 2025 | → |
| Genome-wide association study of childhood B-cell acute lymphoblastic leukemia reveals novel African ancestry-specific susceptibility loci. | Im C et al. | — | 2025 | → |
| Genome-wide association study of chlamydia reinfection in African American women. | Tiwari HK et al. | — | 2025 | → |
| Genome-wide association study of cocoon-producing traits in four Henan silkworm strains revealed new candidate genes. | Song X et al. | — | 2025 | → |
| Genome-Wide Association Study of Cognitive Function in Population-Based Cohorts in Japan: The Tohoku Medical Megabank Brain Magnetic Resonance Imaging Study. | Shinoda G et al. | — | 2025 | → |
| Genome-wide association study of Northern corn leaf blight (NCLB) resistance using temperate and subtropical maize recombinant inbred lines. | Gong X et al. | — | 2025 | → |
| Genome-wide association study of the taste and hedonic ratings of the low-calorie sweetener acesulfame potassium. | Kan M et al. | — | 2025 | → |
| Genome-Wide Association Study of Varenicline-Aided Smoking Cessation. | Coley K et al. | — | 2025 | → |
| Genome-wide association study provides insights into the genetic basis of Lewy body dementia. | Zhu P et al. | — | 2025 | → |
| Genome-wide association study revealed candidate genes associated with egg-laying time traits in layer chicken. | Guo Y et al. | — | 2025 | → |
| Genome-Wide Association Study Revealed Candidate Genes Associated with Litter Size, Weight, and Body Size Traits in Tianmu Polytocous Sheep (<i>Ovis aries</i>). | Liu W et al. | — | 2025 | → |
| Genome-wide association study reveals candidate genes associated with egg-laying performance in Wuhua yellow chicken. | Huang X et al. | — | 2025 | → |
| Genome-wide association study reveals genomic regions impacting yield-related traits in allohexaploid Brassica with AABBCC genomes. | Zhang K et al. | — | 2025 | → |
| Genome-wide association study reveals novel SNP loci and candidate genes linked to flowering time in upland cotton. | Guo X et al. | — | 2025 | → |
| Genome-wide association study to dissect the genetic architecture of bolting-related traits in carrot (Daucus carota). | Kong X et al. | — | 2025 | → |
| Genome-wide detection of runs of homozygosity in Ding'an pigs revealed candidate genes relating to meat quality traits. | Wang Z et al. | — | 2025 | → |
| Genome-wide epistasis analysis reveals significant epistatic signals associated with Parkinson's disease risk. | Cisterna-Garcia A et al. | — | 2025 | → |
| Genome-Wide Genetic Diversity and Population Structure of <i>Sillago sinica</i> (Perciformes, Sillaginidae) from the Coastal Waters of China: Implications for Phylogeographic Pattern and Fishery Management. | Yang T et al. | — | 2025 | → |
| Genome-wide identification of quantitative trait nucleotides for plant architecture-related traits in peanut. | Wang J et al. | — | 2025 | → |
| Genome-wide selection signal analysis reveals the adaptability of Tibetan sheep to high altitudes. | Song Y et al. | — | 2025 | → |
| Genomic Adaptation of Marine Medaka (Oryzias melastigma) Under Artificial Life-History Selection. | Sun P et al. | — | 2025 | → |
| Genomic alterations in normal breast tissues preceding breast cancer diagnosis. | Dai J et al. | — | 2025 | → |
| Genomic alterations linked to recurrence risk in high-grade serous ovarian cancer revealed by deep targeted sequencing. | Park YH et al. | — | 2025 | → |
| Genomic analyses identify distinct patterns of selection in game fowl and Nami chicken. | Gong W et al. | — | 2025 | → |
| Genomic analysis of 11,555 probands identifies 60 dominant congenital heart disease genes. | Sierant MC et al. | — | 2025 | → |
| Genomic analysis reveals genetic diversity and selection signatures of the Yantai Black pig during domestication and breeding. | Qin M et al. | — | 2025 | → |
| Genomic ancestry and adaptive signatures in the indigenous Hetian cattle from Xinjiang Province of China revealed by whole-genome sequencing. | Liu X et al. | — | 2025 | → |
| Genomic and clinical insights into ovarian cancer: subtype-specific alterations and predictors of metastasis and relapse. | Cheng F et al. | — | 2025 | → |
| Genomic and Phytochemical Diversity Across a Collection of Snake Melon Landraces. | Tsolakidou MD et al. | — | 2025 | → |
| Genomic and transcriptomic dynamics in the stepwise progression of lung adenocarcinoma. | Fu F et al. | — | 2025 | → |
| Genomic and transcriptomic landscape of carcinogenesis in patients with gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS). | Matsumoto C et al. | — | 2025 | → |
| Genomic and Transcriptomic Profiling of Amino Acid Compositions in Common Carp Fillets. | Chen Y et al. | — | 2025 | → |
| Genomic Ascertainment of CHEK2-Related Cancer Predisposition. | Kim SY et al. | — | 2025 | → |
| Genomic atlas of 8,105 accessions reveals stepwise domestication, global dissemination, and improvement trajectories in soybean. | Zhu Z et al. | — | 2025 | → |
| Genomic characterization and insights into the belted coat pattern of a local, reconstituted pig population. | Giovannini S et al. | — | 2025 | → |
| Genomic characterization of colorectal tumors: insights into significantly mutated genes, pathways, and survival outcomes. | Harrison TA et al. | — | 2025 | → |
| Genomic Characterization of Crossbred-Driven Adaptation in the Endangered Yangba Cattle of China. | Cai B et al. | — | 2025 | → |
| Genomic Differences and Distinct TP53 Mutation Site-Linked Chemosensitivity in Early- and Late-Onset Gastric Cancer. | Kamio T et al. | — | 2025 | → |
| Genomic discordances and heterogeneous mutational burden, PD-L1 expression and immune infiltrates of non-small cell lung cancer metastasis. | Wu J et al. | — | 2025 | → |
| Genomic Dissection of Chinese Yangtze River Delta White Goat Based on Whole Genome Sequencing. | Gao J et al. | — | 2025 | → |
| Genomic diversity and BCL9L mutational status in circulating tumor cells predict overall survival in metastatic colorectal cancer. | Alves JM et al. | — | 2025 | → |
| Genomic Diversity and Selection Signatures for Zaosheng Cattle. | Xu J et al. | — | 2025 | → |
| Genomic diversity in functionally relevant genes modifies neurodevelopmental versus neoplastic risks in individuals with germline PTEN variants. | Kim AY et al. | — | 2025 | → |
| Genomic Exploration of Severe Mendelian Developmental Anomalies: Insights From Exome Sequencing Analyses in a Large Indian Cohort. | Gupta N et al. | — | 2025 | → |
| Genomic Identification and Validation of Candidate Genes Associated with Alkalinity Tolerance in Exopalaemon carinicauda. | Yan K et al. | — | 2025 | → |
| Genomic insights and SSR marker development for trait improvement in Pleurotus giganteus for tropical cultivation. | Yang Y et al. | — | 2025 | → |
| Genomic insights into deleterious mutations and their impact on agronomic traits during pear domestication. | Zhang X et al. | — | 2025 | → |
| Genomic insights into Rett syndrome-like features in Bangladeshi participants. | Akter H et al. | — | 2025 | → |
| Genomic insights into the convergent evolution of desert adaptation in camels and antelopes. | Zhou J et al. | — | 2025 | → |
| Genomic insights into the genetic diversity and genetic basis of body height in endangered Chinese Ningqiang ponies. | Han J et al. | — | 2025 | → |
| Genomic Insights into Unspecified Monogenic Forms of Diabetes and Their Associated Comorbidities: Implication for Treatment. | Kheriji N et al. | — | 2025 | → |
| Genomic Insights into Vector-Pathogen Adaptation in <i>Haemaphysalis longicornis</i> and <i>Rhipicephalus microplus</i>. | Liu J et al. | — | 2025 | → |
| Genomic landscape of the Great Steppe: Genetic variants in healthy Kazakh individuals. | Serikzhan A et al. | — | 2025 | → |
| Genomic pathogenic alterations in the SWI/SNF complex compromise the outcomes of immunotherapy in Chinese patients with KRAS-mutant NSCLC by downregulating STING expression. | Gao L et al. | — | 2025 | → |
| Genomic profiling in hidradenitis suppurativa: InterOmics pipeline for DNA-RNA sequencing highlights HLA variants, keratin-associated mutations and extracellular matrix alterations as contributing factors to HS pathogenesis. | Cavalcanti Brandão LA et al. | — | 2025 | → |
| Genomic rare variant mechanisms for congenital cardiac laterality defect: A digenic model approach. | Rai A et al. | — | 2025 | → |
| Genomic Scan for Runs of Homozygosity and Identification of Candidate Genes Under Domestication in Fengjing Pigs. | Ni L et al. | — | 2025 | → |
| Genomic, transcriptomic, and immunogenomic landscape of over 1300 sarcomas of diverse histology subtypes. | Soupir A et al. | — | 2025 | → |
| Genotypic and phenotypic spectrum of anophthalmia/microphthalmia in families from Khyber Pakhtunkhwa, Pakistan. | Dawood M et al. | — | 2025 | → |
| Geographic and age variations in mutational processes in colorectal cancer. | Díaz-Gay M et al. | — | 2025 | → |
| Germline Cancer Susceptibility Variants in Patients With Uveal Melanoma. | Repo PE et al. | — | 2025 | → |
| Germline PARN Variants in Telomere Biology Disorders and Challenges in Variant Curation. | Nurelegne HT et al. | — | 2025 | → |
| Germline Pathogenic DROSHA Variants Are Linked to Pineoblastoma and Wilms Tumor Predisposition. | Fiorica PN et al. | — | 2025 | → |
| Ginger genome reveals the SMPED1 gene causing sex-phase synchrony and outcrossing in a flowering plant. | Zhao JL et al. | — | 2025 | → |
| Glioblastoma resistance to EGFR antibody-drug conjugate is driven by transcriptional reprogramming and TEK-induced EGFR suppression. | Blomquist MR et al. | — | 2025 | → |
| Glioma grade and mortality in relation to sequence variation in the mitochondrial genome. | Peeri NC et al. | — | 2025 | → |
| Global analysis of transcription factors using both the reference genome and the multi-transcriptome of <i>Akebia trifoliata</i> reveals a sophisticated functional strategy. | Yang H et al. | — | 2025 | → |
| Global and Sex-Stratified Genome-Wide Association Study of Long COVID Based on Patient-Driven Symptom Recall. | Polo-Alonso S et al. | — | 2025 | → |
| GMP-like and MLP-like Subpopulations of Hematopoietic Stem and Progenitor Cells Harboring Mutated <i>EZH2</i> and <i>TP53</i> at Diagnosis Promote Acute Myeloid Leukemia Relapse: Data of Combined Molecular, Functional, and Genomic Single-Stem-Cell Analyses. | Shahar Gabay T et al. | — | 2025 | → |
| Graft-seq precisely maps RNA modifications via site-specific chemical grafting strategy. | Li T et al. | — | 2025 | → |
| GREGoR: accelerating genomics for rare diseases. | Dawood M et al. | — | 2025 | → |
| GRPa-PRS: A risk stratification method to identify genetically-regulated pathways in polygenic diseases. | Li X et al. | — | 2025 | → |
| GWAS and GS analysis revealed the selection and prediction efficiency for yield, plant morphological, and fiber quality in Gossypium barbadense. | Yang T et al. | — | 2025 | → |
| Haploinsufficiency of GRHL2 is associated with orofacial clefting in humans. | Curtis SW et al. | — | 2025 | → |
| Haplotype-resolved genome and pan-genome graphs reveal the impacts of structural variation on functional genome and feather colors in chickens. | Gu L et al. | — | 2025 | → |
| HCSeeker: A classification tool for human genetic variant hot and cold spots designed for PM1 and benign criteria in the ACMG-AMP guideline. | Yuan X et al. | — | 2025 | → |
| Head and neck tumor organoid grown under simplified media conditions model tumor biology and chemoradiation responses. | Li W et al. | — | 2025 | → |
| Heterogeneity and evolution of DNA mutation rates in microsatellite stable colorectal cancer. | Grassi E et al. | — | 2025 | → |
| Heterogeneous DNA methylation and gene expression patterns underly metabolic plasticity in canine astrocytoma-derived stem-like cells. | Toedebusch RG et al. | — | 2025 | → |
| Hidden Splicing Variants in Inherited Retinal Degeneration: Discovery and Functional Insight. | Huang YS et al. | — | 2025 | → |
| HLA-I genotype landscape in lung cancer and its prognosis value in Chinese small cell lung cancer. | Zhao J et al. | — | 2025 | → |
| Homeodomain leucine zipper protein controls the lobed leaf formation by modulating auxin distribution in watermelon. | Zhou Y et al. | — | 2025 | → |
| Human plasma proteomic profile of clonal hematopoiesis. | Yu Z et al. | — | 2025 | → |
| Identification and Evolution of Salt-Tolerant Genes in Weedy Rice Through High-Throughput Resequencing. | Zou B et al. | — | 2025 | → |
| Identification and functional characteristics of a novel splice site variant in <i>L1CAM</i> caused X-linked hydrocephalus. | Zhou S et al. | — | 2025 | → |
| Identification and functional characterization of 11 novel <i>CYP2C19</i> variants in the Chinese Han population. | Lin Q et al. | — | 2025 | → |
| Identification and functional study of a novel FOXC1 missense mutation in a Chinese family with Axenfeld-Rieger syndrome. | Gong X et al. | — | 2025 | → |
| Identification and Functional Validation of Novel Pathogenic Variants in Primary Immunodeficiencies. | Vr A et al. | — | 2025 | → |
| Identification and Specific KASP Marker Development for Durum Wheat T2DS-2AS.2AL Translocation Line YL-429 with Wax Inhibitor Gene <i>IW2</i>. | Yang S et al. | — | 2025 | → |
| Identification and utilization of a novel large-effect QTL and linked markers for enhancing protein concentration in peanut. | Wang M et al. | — | 2025 | → |
| Identification of a de Novo MARK2 gene variant in a patient with autism spectrum disorder, epilepsy, and neurodevelopmental delay. | Sun X et al. | — | 2025 | → |
| Identification of a novel missense variant in the <i>LMX1B</i> gene associated with nail-patella syndrome in a Chinese family. | Sun Q et al. | — | 2025 | → |
| Identification of a novel SACS gene mutation leading to spastic ataxia Charlevoix-Saguenay type: a case report. | Raggio V et al. | — | 2025 | → |
| Identification of candidate genes associated with bipolar disorder by whole-exome sequencing of a Chinese multi-affected pedigree. | Wang Y et al. | — | 2025 | → |
| Identification of Critical Candidate Genes Controlling Monokaryon Fruiting in <i>Flammulina filiformis</i> Using Genetic Population Construction and Bulked Segregant Analysis Sequencing. | Wang P et al. | — | 2025 | → |
| Identification of genetic architecture shared between schizophrenia and Alzheimer's disease. | Liu H et al. | — | 2025 | → |
| Identification of Genomic Structural Variations in Xinjiang Brown Cattle by Deep Sequencing and Their Association with Body Conformation Traits. | Wang D et al. | — | 2025 | → |
| Identification of Genomic Variants and Candidate Genes for Reproductive Traits and Growth Traits in Pishan Red Sheep Using Whole-Genome Resequencing. | Muhetapa M et al. | — | 2025 | → |
| Identification of key candidate genes regulating hundred-grain weight in the maize inbred line Ye107 from Southern China. | Hong X et al. | — | 2025 | → |
| Identification of major loci governing 13 agronomic traits and the fine-mapping of CaSUN29 regulating fruit length in pepper. | Wang Y et al. | — | 2025 | → |
| Identification of molecular heterogeneity in telomere maintenance pathway of aplastic anemia. | Adhikari S et al. | — | 2025 | → |
| Identification of novel TCOF1 mutations in Treacher Collins syndrome and their functional characterization. | Chen Y et al. | — | 2025 | → |
| Identification of pathogenic variants for the development of ultra-long axial length in myopic children. | Zhu Y et al. | — | 2025 | → |
| Identification of SNPs and Candidate Genes Associated with Fecundity Trait Using BSA-seq and RNA-seq in Exopalaemon carinicauda. | Wang J et al. | — | 2025 | → |
| Identification of Spike Length Gene and Development of KASP Markers in Wheat. | Jiang T et al. | — | 2025 | → |
| Identification of the Lynch syndrome and Lynch-like syndrome specific somatic mutations in microsatellite instability-high colorectal cancer cases. | Ofuchi T et al. | — | 2025 | → |
| Identification of the putative regulatory regions and candidate genes associated with backfat thickness and intramuscular fat content traits in Xiang pigs. | Chen X et al. | — | 2025 | → |
| Identification of variants from gene expression data of opioid-addicted patients. | Ajmeriya S et al. | — | 2025 | → |
| Illuminating the Noncoding Genome in Cancer Using Artificial Intelligence. | Alvarez-Torres MDM et al. | — | 2025 | → |
| Immunohistochemical and molecular evolutionary features of jejunoileal adenocarcinoma unveiled through comparative analysis with colorectal adenocarcinoma. | Ishikawa R et al. | — | 2025 | → |
| Improved identification of tumor-specific TCRs from circulating lymphocytes using autologous colorectal tumor organoids. | Ma L et al. | — | 2025 | → |
| Improving newborn screening accuracy through genome sequencing, targeted metabolomics, and machine learning. | Xie Y et al. | — | 2025 | → |
| Inborn errors of immunity underlie clonal T cell expansions in large granular lymphocyte leukemia. | Bravo-Perez C et al. | — | 2025 | → |
| Incident cytopenia and risk of subsequent myeloid neoplasm in age-related clonal hematopoiesis: a multi-biobank case-control study. | Brogan J et al. | — | 2025 | → |
| Increasing pathogenic germline variant diagnosis rates in precision medicine: current best practices and future opportunities. | Dukda S et al. | — | 2025 | → |
| Indel calling from ONT sequencing data of family trios via sparse attention and 3D convolution. | Shi Y et al. | — | 2025 | → |
| Independent Mutations in the <i>LRP2</i> Gene Mediating Telescope Eyes and Celestial Eyes in Goldfish. | Li R et al. | — | 2025 | → |
| In-depth analysis of the RNA editing landscape in intracranial aneurysms and its potential role in alternative splicing. | Wang Y et al. | — | 2025 | → |
| Insights into genetic heterogeneity and drug resistance in Leishmania donovani of the Indian sub-continent from genomic data. | Verma A et al. | — | 2025 | → |
| Insights into natural neocentromere evolution from a cattle T2T X chromosome. | Pineda PS et al. | — | 2025 | → |
| In situ structure of the mouse sperm central apparatus reveals mechanistic insights into asthenozoospermia. | Zhu Y et al. | — | 2025 | → |
| Integrated BSA-Seq and WGCNA Analyses Reveal Candidate Genes Associated with Winter Bud Dormancy Maintenance in Fruit Mulberry (<i>Morus</i> spp.). | Sun B et al. | — | 2025 | → |
| Integrated genomic and transcriptomic analysis of polydactyly in chickens. | Huang Z et al. | — | 2025 | → |
| Integrated Genomic Approaches to Elucidate the Genetic Basis of Brugada Syndrome in Taiwanese Patients. | Goswami C et al. | — | 2025 | → |
| Integrated Genomic-Metabolomic Analysis for Tri-Categorical Classification of Type 2 Diabetes Status in the Korean Ansan-Ansung Cohort. | Cha J et al. | — | 2025 | → |
| Integrated Multi-Omics Analysis Reveals the Role of Resveratrol in Regulating the Intestinal Function of <i>Megalobrama amblycephala</i> via m<sup>6</sup>A Methylation. | Gu Z et al. | — | 2025 | → |
| Integrated Multi-Omics Profiling to Characterize Molecular Subtypes and Reveal Potential Therapeutic Strategies for Colorectal Cancer. | Guo X et al. | — | 2025 | → |
| Integrated Multiomics Validation of Key <i>MUC</i> Gene Expression for the Signature Biomarker in the Pakistani Cohort. | Naeem M et al. | — | 2025 | → |
| Integrated proteomic and targeted Next Generation Sequencing reveal relevant heterogeneity in lower-grade meningioma and ANXA3 as a new target in NF2 mutated meningiomas. | Shah M et al. | — | 2025 | → |
| Integrated transcriptome, GWAS, and metabolome revealed the mechanism of seed germination in sorghum. | Ju L et al. | — | 2025 | → |
| Integrating AI and genomics: predictive CNN models for schizophrenia phenotypes. | Henriques G et al. | — | 2025 | → |
| Integrating gene mutation spectra from tumors and the general population with gene expression topological networks to identify novel cancer driver genes. | Yang S et al. | — | 2025 | → |
| Integrating whole-exome sequencing and scRNA-seq reveal the characteristic in one clear cell renal cell carcinoma sample arising in the setting of VHL disease. | Lu W et al. | — | 2025 | → |
| Integration of germline pharmacogenomic burden to predict fluoropyrimidine-related toxicity - A secondary analysis of the PREPARE trial. | De Mattia E et al. | — | 2025 | → |
| Integration of multi-omics resources reveals genetic features associated with environmental adaptation in the Wuzhishan pig genome. | Zhong Z et al. | — | 2025 | → |
| Integration of scRNA-Seq and scATAC-Seq Reveals Malignant Characteristics of Sarcomatoid Clear Cell Renal Cell Carcinoma. | Lu W et al. | — | 2025 | → |
| Integrative genomic structural variation analysis unveils genetic architecture underlying important traits in Gossypium barbadense. | Li H et al. | — | 2025 | → |
| Integrative mapping in large inbred and hybrid association panels along with an F<sub>2</sub> population advanced a novel understanding of general combining ability for plant height in maize. | Luo J et al. | — | 2025 | → |
| Integrative multi-omic profiling of the neoantigen landscape of glioblastoma for the development of therapeutic vaccines reveals vast heterogeneity in immunogenic signatures. | Lin Q et al. | — | 2025 | → |
| Integrative multi-omics analysis reveals key regulatory nodes of abdominal fat deposition in broiler chickens. | Ma J et al. | — | 2025 | → |
| Integrative proteogenomic characterization of Wilms tumor. | Cheng C et al. | — | 2025 | → |
| Integrative Taxonomy for Species Delimitation: A Case Study in Two Widely Accepted Yet Morphologically Confounding Rosa Species Within Sect. Pimpinellifoliae (Rosaceae). | Yuan Y et al. | — | 2025 | → |
| Interactive effects of genotype with prenatal stress on DNA methylation at birth. | Mulder RH et al. | — | 2025 | → |
| Interdependence of Pasha and Drosha for localization and function of the Microprocessor in C. elegans. | Knittel TL et al. | — | 2025 | → |
| Interferon-γ-mediated selective inhibition of hematopoiesis and the clonal advantage of HLA-lacking hematopoietic stem progenitor cells in aplastic anemia. | Takahashi R et al. | — | 2025 | → |
| Internal tandem duplications of FLT3 containing exogenous sequences are associated with poor clinical outcomes in acute myeloid leukemia. | Li ST et al. | — | 2025 | → |
| Intrahepatic Microbial Heterogeneity in Multifocal Hepatocellular Carcinoma and Its Association with Host Genomic and Transcriptomic Alterations. | Lu Y et al. | — | 2025 | → |
| Intraline genomic heterogeneity of the triple-negative breast cancer MDA-MB-231-luc-GFP cell line. | Varela-Rouco N et al. | — | 2025 | → |
| Intricate interactions between fine-scale genetic structure, lifestyle, and dietary habits in the Japanese population. | Chen Y et al. | — | 2025 | → |
| Investigating the shared genetic architecture between obesity and depression: a large-scale genomewide cross-trait analysis. | Yuan L et al. | — | 2025 | → |
| Involvement of KEAP1/NRF2 pathway in non-BRAF mutated squamous cell carcinoma of the thyroid. | Schoultz E et al. | — | 2025 | → |
| Isolation and Characterization of the Adamantinomatous Craniopharyngioma Primary Cells with Cancer-Associated Fibroblast Features. | Chen D et al. | — | 2025 | → |
| Landscape genomics analysis reveals the genetic basis underlying cashmere goats and dairy goats adaptation to frigid environments. | Zhao J et al. | — | 2025 | → |
| Landscape of extrachromosomal DNA characteristics in high-grade serous ovarian cancer via long-read sequencing. | Sun R et al. | — | 2025 | → |
| Large-scale analysis of SARS-CoV-2 genomic data from sewage using eVarEPS reveals that amino acid mutations detected in sewage provide an early warning on population prevalence. | Lv Z et al. | — | 2025 | → |
| Large-scale multi-omics analyses in Hispanic/Latino populations identify genes for cardiometabolic traits. | Petty LE et al. | — | 2025 | → |
| LCORL and STC2 Variants Increase Body Size and Growth Rate in Cattle and Other Animals. | Bai F et al. | — | 2025 | → |
| Lenticulostriate vasculopathy in newborns: whole genome sequencing data analysis. | Dauengauer-Kirlienė S et al. | — | 2025 | → |
| Leveraging underrepresented population data improves interpretation of genetic variants associated with hearing loss. | Joo SY et al. | — | 2025 | → |
| Longitudinal Profiling of Circulating Tumor DNA Reveals the Evolutionary Dynamics of Metastatic Prostate Cancer during Serial Therapy. | Zhao Y et al. | — | 2025 | → |
| Low T cell diversity associates with poor outcome in bladder cancer: A comprehensive longitudinal analysis of the T cell receptor repertoire. | Kjær A et al. | — | 2025 | → |
| LRRK2 rare-variant per-domain genetic burden in Parkinson's Disease: association confined to the kinase domain. | Parlar SC et al. | — | 2025 | → |
| <i>APOE</i> Genotype-Stratified Meta-Analysis of Cognitive Decline Reveals Novel Loci for Language and Global Cognitive Function in Older Adults. | Acharya V et al. | — | 2025 | → |
| <i>BTN2A1</i> and <i>BTN3A1</i> as Novel Coeliac Disease Risk Loci: An In Silico Analysis. | Luu Hoang KN et al. | — | 2025 | → |
| <i>CpARF6</i> Controls Lobed Leaf Formation in Zucchini. | Jiang S et al. | — | 2025 | → |
| <i>In vitro</i> and <i>in vivo</i> inhibitory effects and transcriptional reactions of graphene oxide on <i>Verticillium dahliae</i>. | Li Z et al. | — | 2025 | → |
| Lutetium-177-PSMA-617 or cabazitaxel in metastatic prostate cancer: circulating tumor DNA analysis of the randomized phase 2 TheraP trial. | Kwan EM et al. | — | 2025 | → |
| Machine learning driven multi-omics analysis of the genetic mechanisms behind the double-coat fleece formation in Hetian sheep. | Zhang Y et al. | — | 2025 | → |
| Machine learning in Alzheimer's disease genetics. | Bracher-Smith M et al. | — | 2025 | → |
| MAP3K1/MAP2K4 mutations drive breast cancer progression by compensating for TP53 loss through inactivation of the JNK2-p53-FOSL1 axis. | Hu S et al. | — | 2025 | → |
| Maternal Myo-Inositol Deficiency Involved Autophagy Impairment by PI3K/Akt/mTOR Signaling in Neural Tube Defects During Pregnancy. | Guo J et al. | — | 2025 | → |
| Membrane frizzled-related protein: a comprehensive analysis of genetic characteristics, phenotypic manifestations and impact on retinal microvasculature. | Simsek M et al. | — | 2025 | → |
| MET and NF2 alterations confer primary and early resistance to first-line alectinib treatment in ALK-positive non-small-cell lung cancer. | Hu J et al. | — | 2025 | → |
| Missense Mutations in the KAT Domain of <i>CREBBP</i> Gene in Patients with Follicular Lymphoma: Implications for Differential Diagnosis and Prognosis. | Smolianinova A et al. | — | 2025 | → |
| Mitochondrial DNA Copy Number as a Hidden Player in the Progression of Multiple Sclerosis: A Bidirectional Two-Sample Mendelian Randomization Study. | Sabaie H et al. | — | 2025 | → |
| Modeling anti-tumor immune responses using patient-derived melanoma organoids. | Kaminska K et al. | — | 2025 | → |
| Molecular characterization of imprinting disorders: Beckwith-Wiedemann, Silver-Russell, and Prader-Willi syndromes in Egyptian patients. | Mohamed AM et al. | — | 2025 | → |
| Molecular Determinants of the Human Retinal Pigment Epithelium Cell Fate and Potential Pharmacogenomic Targets for Precision Medicine. | Zibetti C | — | 2025 | → |
| Molecular Genetic Basis of Reproductive Fitness in Tibetan Sheep on the Qinghai-Tibet Plateau. | Zheng W et al. | — | 2025 | → |
| Molecular landscape, subtypes, and therapeutic vulnerabilities of central nervous system solitary fibrous tumors. | Zhao C et al. | — | 2025 | → |
| Moroccan genome project: genomic insight into a North African population. | El Fahime E et al. | — | 2025 | → |
| Multi-analyte approach combining cfDNA sequencing and protein testing for early ovarian cancer detection. | Wang F et al. | — | 2025 | → |
| Multi-domain rule-based phenotyping algorithms enable improved GWAS signal. | Newbury A et al. | — | 2025 | → |
| Multi-Experiment and Multi-Locus Genome-Wide Association Mapping for Grain Arsenic in Rice Population. | Chen C et al. | — | 2025 | → |
| Multifaceted disruption of AMPA receptor signaling by <i>CACNG8</i> variants: Integrated evidence from human genetics and molecular simulation. | Alibrandi S et al. | — | 2025 | → |
| Multimodal analysis stratifies genetic susceptibility and reveals the pathogenic mechanism of kidney injury in diabetic nephropathy. | Jiang S et al. | — | 2025 | → |
| Multimodal CRISPR screens uncover DDX39B as a global repressor of A-to-I RNA editing. | Wei T et al. | — | 2025 | → |
| Multi‑omics analysis identifies different molecular subtypes with unique outcomes in early-stage poorly differentiated lung adenocarcinoma. | Liu B et al. | — | 2025 | → |
| Multi-Omics Analysis Reveals Adaptation Strategies of Marine Diatom to Long-Term Ocean Warming: Resource Allocation Trade-Offs and Epigenetic Regulation. | Hong T et al. | — | 2025 | → |
| Multi-omics analysis reveals the attenuation of the interferon pathway as a driver of chemo-refractory ovarian cancer. | Afenteva D et al. | — | 2025 | → |
| Multi-omics Characterization of Acquired Olaparib Resistance in BRCA1 and BRCA2 Mutant Breast Cancer Cell Lines. | Anagho-Mattanovich HA et al. | — | 2025 | → |
| Multi-omics-guided characterization of neoantigens improves patient stratification and potentiates combinatorial immunotherapy in glioma. | Ma Y et al. | — | 2025 | → |
| Multisite long-read sequencing reveals the early contributions of somatic structural variations to HBV-related hepatocellular carcinoma tumorigenesis. | Zeng T et al. | — | 2025 | → |
| Multi-task learning identifies shared genetic risk for late-onset epilepsy and alzheimer's disease. | Fu M et al. | — | 2025 | → |
| Multi-trait association analysis reveals shared genetic architecture between lung cancer and cardiometabolic diseases. | Lyu Q et al. | — | 2025 | → |
| Multivariate genome-wide analyses of insulin resistance unravel novel loci and therapeutic targets for cardiometabolic health. | Ye C et al. | — | 2025 | → |
| Mutant p53-specific CD8TCR-therapy combined with a CD4TCR prevents relapse of cancer and outgrowth of micrometastases. | Anastasopoulou V et al. | — | 2025 | → |
| Mutational landscape of triple-negative breast cancer in African American women. | Yao S et al. | — | 2025 | → |
| Mutation interactions of BRAF and TP53 define novel prognostic stratification and therapeutic implications in papillary thyroid carcinoma. | Liu L et al. | — | 2025 | → |
| Mutation of <i>smeRv</i> Renders <i>Stenotrophomonas maltophilia</i> Resistant to First-Line Antibiotics Trimethoprim/Sulfamethoxazole and Levofloxacin. | Boonyong N et al. | — | 2025 | → |
| Mutation profile and molecular heterogeneity in mismatch repair deficient endometrial carcinoma. | Cai Y et al. | — | 2025 | → |
| Mutations adjacent to the nucleotide-binding cleft of Arabidopsis thaliana ACTIN7 confer resistance to the actin-disrupting compound latrunculin B. | Sparks JA et al. | — | 2025 | → |
| Mutations in BrRBM25 encoding an RNA binding motif protein cause premature bolting in Chinese cabbage. | Liao R et al. | — | 2025 | → |
| Mutations of the complex I PSST target gene confers acaricide resistance and a fitness cost in Panonychus citri. | Pan D et al. | — | 2025 | → |
| Nanopore sequencing in veterinary medicine: from concepts to clinical applications. | Chaves M et al. | — | 2025 | → |
| Natural variations in the promoter of ZmDeSI2 encoding a deSUMOylating isopeptidase controls kernel methionine content in maize. | Lu X et al. | — | 2025 | → |
| Near complete assembly of Drosophila melanogaster Canton S strain genome. | Liu YN et al. | — | 2025 | → |
| Neoadjuvant sintilimab and chemotherapy followed by transoral surgery for HPV-positive resectable oropharyngeal cancer: a single-arm, two-centre, phase 2 trial. | Yan S et al. | — | 2025 | → |
| Neoadjuvant toripalimab plus nimotuzumab combined with taxol-based chemotherapy in locally advanced penile squamous cell carcinoma. | An X et al. | — | 2025 | → |
| Neuronal ceroid lipofuscinosis type 5 in Russia: first case report and literature review. | Parshina OP et al. | — | 2025 | → |
| New insights into genetic architecture of Guangxi indigenous chickens using whole-genome sequencing. | Yang Z et al. | — | 2025 | → |
| Next generation DNA sequencing data analysis and its application in clinical genomics. | Beura A et al. | — | 2025 | → |
| Next-Generation Sequencing: A Review of Its Transformative Impact on Cancer Diagnosis, Treatment, and Resistance Management. | Isaic A et al. | — | 2025 | → |
| NGS Approaches in Clinical Diagnostics: From Workflow to Disease-Specific Applications. | Brancato D et al. | — | 2025 | → |
| Nine high-quality Anas genomes provide insights into Anas evolution and domestication. | Zhang Z et al. | — | 2025 | → |
| Noncoding <i>de novo</i> mutations in <i>SCN2A</i> are associated with autism spectrum disorders. | Zhang Y et al. | — | 2025 | → |
| Non-Random Distribution of EMS-Induced Mutations Reveals Preference for Open Chromatin and Expressed Genes in Rice. | Yao XF et al. | — | 2025 | → |
| Non-recurrent duplications on chromosome 4p16.1 involving cis-regulatory elements affecting neural crest development in patients with isolated bilateral microtia. | Meng X et al. | — | 2025 | → |
| Non-recurrent mutations and copy number changes predominate pituitary adenoma genomes. | Mohan DR et al. | — | 2025 | → |
| Novel compound heterozygous <i>CNGA3</i> mutation associated with retinal cone dystrophy. | Sun R et al. | — | 2025 | → |
| Novel EP300 and NSD1 variants in Chinese pediatric patients with Rubinstein-Taybi syndrome: evidence for oligogenic inheritance and phenotypic expansion. | Ningan X et al. | — | 2025 | → |
| Novel estrogen-related gene variants identified by whole-exome sequencing in pregnancy-associated intrahepatic cholestasis. | Lai H et al. | — | 2025 | → |
| Novel Genetic Loci for Nontuberculous Mycobacterial Pulmonary Disease and Potential Protective Effect of Body Mass Index. | Park K et al. | — | 2025 | → |
| Novel homozygous variants in piRNA pathway factors lead to male infertility in humans. | Hu K et al. | — | 2025 | → |
| Novel KDM3B Variants in Two Chinese Patients With Global Developmental Delay and Autism. | Cao F et al. | — | 2025 | → |
| Novel Loss of Function Variant in SOST From Chinese Family Results in Sclerosteosis 1. | Guo Y et al. | — | 2025 | → |
| Novel <i>SSR4</i> gene splice variant leads to congenital disorder of glycosylation, type Iy. | Li N et al. | — | 2025 | → |
| Novel Resistance Mechanisms to Second-Generation EGFR Tyrosine Kinase Inhibitor Afatinib and Associations With Genomic Features in NSCLC. | Lin F et al. | — | 2025 | → |
| Nuclear m<sup>6</sup>A modification regulates satellite transcription and chromosome segregation. | Huang C et al. | — | 2025 | → |
| Oligogenic structure of amyotrophic lateral sclerosis has genetic testing, counselling and therapeutic implications. | Iacoangeli A et al. | — | 2025 | → |
| OmniNeo: a multi-omics pipeline incorporating proteomics and AI selection for neoantigen optimization in tumor immunotherapy. | Lu M et al. | — | 2025 | → |
| Oncogene aberrations drive medulloblastoma progression, not initiation. | Okonechnikov K et al. | — | 2025 | → |
| Onkopus: precise interpretation and prioritization of sequence variants for biomedical research and precision medicine. | Kurz NS et al. | — | 2025 | → |
| Optimizing UK biobank cloud-based research analysis platform to fine-map coronary artery disease loci in whole genome sequencing data. | Sng LMF et al. | — | 2025 | → |
| Origins, Dispersal, and Impact: Bidirectional Introgression Between Chinese and European Pig Populations. | Qiu Y et al. | — | 2025 | → |
| Osimertinib plus anlotinib for advanced NSCLC with acquired EGFR T790M mutation: results from a multicenter phase II study with ctDNA analysis. | Wang X et al. | — | 2025 | → |
| OsnTNB.11 Encodes a CC-NBS-LRR Type Resistance Protein that Positively Regulates Resistance to Rice Kernel Smut by Modulating the Ethylene Signalling. | Shu X et al. | — | 2025 | → |
| PAM-flexible adenine base editing rescues hearing loss in a humanized MPZL2 mouse model harboring an East Asian founder mutation. | Hu SW et al. | — | 2025 | → |
| Pan-Genome-Wide Investigation and Expression Analysis of <i>GATA</i> Gene Family in Maize. | Zhao F et al. | — | 2025 | → |
| Parallel evolution of salinity tolerance in <i>Arabidopsis thaliana</i> accessions from Cape Verde Islands. | Martínez Rivas FJ et al. | — | 2025 | → |
| Past, present, and future of genomic technologies in cerebellar ataxias. | Lucain M et al. | — | 2025 | → |
| Pathway polygenic risk scores (pPRS) for the analysis of gene-environment interaction. | Gauderman WJ et al. | — | 2025 | → |
| Patient-derived esophageal adenocarcinoma organ chip: a physiologically relevant platform for functional precision oncology. | Pal S et al. | — | 2025 | → |
| Patient-Derived Xenograft Mouse Model of a Rare Gynecologic Malignancy: Personalized Medicine for the Treatment of Mesonephric-Like Adenocarcinoma. | Kasuya K et al. | — | 2025 | → |
| Patients with anorexia nervosa have an increased burden of rare, damaging mutations in the BBOX1 gene. | Lutter M | — | 2025 | → |
| Patterns of HER2 Expression in Metastatic Prostate and Urothelial Cancers: Implications for HER2-Targeted Therapies. | Lee HJ et al. | — | 2025 | → |
| Patterns of intra- and intertumor phenotypic heterogeneity in lethal prostate cancer. | Roudier MP et al. | — | 2025 | → |
| Perioperative nivolumab and chemotherapy in locally advanced squamous cell carcinoma of the oesophagus: a randomized multicentre phase 2 study with circulating tumor DNA dynamics monitoring. | Jiao H et al. | — | 2025 | → |
| Personalized ctDNA detection and genomic profiling in the NeoRHEA Study. | Stanciu A et al. | — | 2025 | → |
| Pharmacogenomic landscape of TNF inhibitors in the Middle Eastern Qatari population. | Jan Z et al. | — | 2025 | → |
| Phase II Trial of Atezolizumab and Bevacizumab for Treatment of HPV-Positive Unresectable or Metastatic Squamous Cell Carcinoma of the Anal Canal. | Morris VK et al. | — | 2025 | → |
| Phenotype-Based Classification of Obstructive Hypertrophic Cardiomyopathy Undergoing Myectomy. | Cui H et al. | — | 2025 | → |
| Phenotype to genotype: A new and rapid approach using whole-genome sequencing. | Feltes M et al. | — | 2025 | → |
| Phylogenomics provides comprehensive insights into the evolutionary relationships among cultivated buckwheat species. | Shi Y et al. | — | 2025 | → |
| PLK1 Inhibition Induces Synthetic Lethality in Fanconi Anemia Pathway-Deficient Acute Myeloid Leukemia. | Sheth AS et al. | — | 2025 | → |
| Population genomics of sika deer reveals recent speciation and genetic selective signatures during evolution and domestication. | Liu H et al. | — | 2025 | → |
| Population genomics reveals population structure and local adaptation of the Helicoverpa armigera lineage in Xinjiang, China. | Hou B et al. | — | 2025 | → |
| Population-Specific Differences in Pathogenic Variants of Genes Associated with Monogenic Parkinson's Disease. | Flores-Ocampo V et al. | — | 2025 | → |
| Population-specific polygenic risk scores for people of Han Chinese ancestry. | Chen HH et al. | — | 2025 | → |
| Prematurity and genetic liability for autism spectrum disorder. | Zhang Y et al. | — | 2025 | → |
| Prenatal diagnosis of a <i>de novo</i> pathogenic <i>HNRNPK</i> variant in a Chinese fetus with abnormal ultrasound soft markers: a case report. | Zhu Y et al. | — | 2025 | → |
| Prenatal Ultrasound Diagnosis and Genetic Analysis of Interrupted Aortic Arch. | Xie J et al. | — | 2025 | → |
| Prognostic impact of biomarkers in PMBCL: rationale for early integration of immune checkpoint inhibitors. | Mangasarova YK et al. | — | 2025 | → |
| Prospective, multicenter validation of a platform for rapid molecular profiling of central nervous system tumors. | Patel A et al. | — | 2025 | → |
| Protein-Altering Variants' Analysis in Autism Subgroups Uncovers Early Brain-Expressed Gene Modules Relevant to Autism Pathophysiology. | Scaccabarozzi G et al. | — | 2025 | → |
| Proteogenomic Analysis Identifies Clinically Relevant Subgroups of Collecting Duct Carcinoma. | Qu Y et al. | — | 2025 | → |
| Proteogenomic characterization of non-functional pancreatic neuroendocrine tumors unravels clinically relevant subgroups. | Ji S et al. | — | 2025 | → |
| Proteogenomic characterization unveils biomarkers associated with chemoresistance in muscle-invasive bladder cancer. | Holt MV et al. | — | 2025 | → |
| PROTRIDER: protein abundance outlier detection from mass spectrometry-based proteomics data with a conditional autoencoder. | Klaproth-Andrade D et al. | — | 2025 | → |
| qcCHIP: an R package to identify clonal hematopoiesis variants using cohort-specific data characteristics. | Liu X et al. | — | 2025 | → |
| Radiogenomic Profiling of Prostate Tumors prior to External Beam Radiotherapy Converges on a Transcriptomic Signature of TGF-β Activity Driving Tumor Recurrence. | Ku AT et al. | — | 2025 | → |
| Rare and low-frequency variants in families with otitis media. | Santos-Cortez RLP et al. | — | 2025 | → |
| Rare missense variants in <i>FNDC1</i> are associated with severe adolescent idiopathic scoliosis. | Charng WL et al. | — | 2025 | → |
| Rare variants in PRKCI cause Van der Woude syndrome and other features of peridermopathy. | Robinson K et al. | — | 2025 | → |
| Rare Variation in LMNA Underlies Polycystic Ovary Syndrome Pathogenesis in 2 Independent Cohorts. | Bauer R et al. | — | 2025 | → |
| Real-world deployment of a fine-tuned pathology foundation model for lung cancer biomarker detection. | Campanella G et al. | — | 2025 | → |
| Recurrence Prediction by Multi-Omics in the Patient with Colorectal Peritoneal Metastases After Cytoreductive Surgery: A Prospective Biomarker Study. | Chen C et al. | — | 2025 | → |
| Recurrence risk prediction in resected stage I-III melanoma utilizing circulating tumor DNA. | Zhao M et al. | — | 2025 | → |
| Re-evaluation of the contribution of <i>TNFRSF13B</i> variants to antibody deficiency. | Abolhassani H et al. | — | 2025 | → |
| Repeat Expansions in PLIN4 Cause Autosomal Dominant Vacuolar Myopathy With Sarcolemmal Features. | Llansó L et al. | — | 2025 | → |
| Resequencing and Functional Analysis Revealed That <i>BsDFR4</i> Could Cause the Formation of Different Flower Colors in <i>Bletilla striata</i> (Orchidaceae). | Zheng S et al. | — | 2025 | → |
| Resequencing and Transcriptome Analyses Reveal Variations and Expression Patterns of the RR Gene Family in Cucumber. | Su K et al. | — | 2025 | → |
| Revealing the genetic architectures underlying organ-specific aging based on proteomic data. | Zhu RJ et al. | — | 2025 | → |
| Risk Factors and Genetic Insights into Coronary Artery Disease-Related Sudden Cardiac Death: A Molecular Analysis of Forensic Investigation. | He X et al. | — | 2025 | → |
| RNA-binding proteins regulate immune-related alternative splicing in inherited salt-losing tubulopathies. | Ma F et al. | — | 2025 | → |
| RNA sequencing and genome-wide association analysis reveal key genes responsible for different feather colors in Youjiang goose. | Zhao M et al. | — | 2025 | → |
| Role of genomic analysis in the classification of well differentiated hepatocellular lesions. | Akarca FG et al. | — | 2025 | → |
| Runs of homozygosity and selection signals analysis reveals domestication traits and divergence in local domestic duck breeds. | Ren P et al. | — | 2025 | → |
| SAI: A Python Package for Statistics for Adaptive Introgression. | Huang X et al. | — | 2025 | → |
| ScisTree2 enables large-scale inference of cell lineage trees and genotype calling using efficient local search. | Zhang H et al. | — | 2025 | → |
| SDFA: a standardized decomposition format and toolkit for efficient analysis of structural variants in large-scale population genomic studies. | Peng W et al. | — | 2025 | → |
| SEC24D depletion induces osteogenic differentiation deficiency by inactivating the ATF6/TGF-β/Runx2 regulatory loop. | Zhang J et al. | — | 2025 | → |
| Senescence-driven molecular subtyping in pancreatic cancer: a multi-omics framework for precision medicine. | Shi M et al. | — | 2025 | → |
| Sequencing Analysis Demonstrates That a Complex Genetic Architecture Contributes to Risk for Spina Bifida. | Strain M et al. | — | 2025 | → |
| Sequencing validates deep learning models for EHR-based detection of Noonan syndrome in pediatric patients. | Yang Z et al. | — | 2025 | → |
| Sex-stratified genome-wide association meta-analysis of major depressive disorder. | Thomas JT et al. | — | 2025 | → |
| Sex-stratified genome-wide association meta-analysis of Major Depressive Disorder | Thomas JT et al. | — | 2025 | — |
| Sexual selection, genomic evolution and population fitness in <i>Drosophila pseudoobscura</i>. | Leigh S et al. | — | 2025 | → |
| Shared Genetic Architecture Between Atopic Dermatitis and Autoimmune Diseases. | Lazanas P et al. | — | 2025 | → |
| Shared genetic architecture between leukocyte telomere length and Alzheimer's disease. | Cao Z et al. | — | 2025 | → |
| Simulating metabolic pathways to enhance interpretations of metabolome genome-wide association studies. | Kodate S et al. | — | 2025 | → |
| Single-cell profiling identifies biomarkers for immunochemotherapy in esophageal squamous cell carcinoma. | Wang C et al. | — | 2025 | → |
| Sintilimab plus chemotherapy for first-line treatment of advanced pulmonary lymphoepithelioma-like carcinoma: Phase 2 trial. | Lin X et al. | — | 2025 | → |
| SLC39A8-mediated zinc dyshomeostasis potentiates kidney disease. | Cai Z et al. | — | 2025 | → |
| Somatic <i>TEK</i> Mutation Identified in a Patient with Calvarial Venous Malformations. | Fan B et al. | — | 2025 | → |
| Somatic mtDNA mutations at intermediate levels of heteroplasmy are a source of functional heterogeneity among primary leukemic cells. | McCastlain K et al. | — | 2025 | → |
| Somatic Mutations of Thymic Epithelial Tumors Identified in the Prospective THYMOGENE Trial. | Pardini E et al. | — | 2025 | → |
| Somatic NAP1L1 p.D349E promotes cardiac hypertrophy through cGAS-STING-IFN signaling. | Lv C et al. | — | 2025 | → |
| Somatic reversion in CD137 deficiency correlating with Epstein-Barr virus control and clinical improvement. | Batlle-Masó L et al. | — | 2025 | → |
| Spatial determinants of antibody-drug conjugate SHR-A1811 efficacy in neoadjuvant treatment for HER2-positive breast cancer. | Ma D et al. | — | 2025 | → |
| Spatial profiling of human pancreatic ductal adenocarcinoma reveals molecular alterations associated with venous invasion. | Bell ATF et al. | — | 2025 | → |
| Spatial-Temporal Diversity of Extrachromosomal DNA Shapes Urothelial Carcinoma Evolution and the Tumor Immune Microenvironment. | Lv W et al. | — | 2025 | → |
| Spatiotemporal dynamics of RERE in schizophrenia pathogenesis: insights from multi-omics and single-cell sequencing. | Shen J et al. | — | 2025 | → |
| Spontaneous Coronary Artery Dissection and a Family History of Aortic Dissection: A Genetic Association Study. | McGrath-Cadell L et al. | — | 2025 | → |
| Stable clonal contribution of lineage-restricted stem cells to human hematopoiesis. | Yoshizato T et al. | — | 2025 | → |
| Stroke-like lesion and status epilepticus in a child with <i>NARS2</i>-related combined oxidative phosphorylation deficiency 24. | Su S et al. | — | 2025 | → |
| Structural Variations Associated with Adaptation and Coat Color in Qinghai-Tibetan Plateau Cattle. | Xia X et al. | — | 2025 | → |
| Structural Variations Contribute to Subspeciation and Yield Heterosis in Rice. | Dan Z et al. | — | 2025 | → |
| Synchronous endometrial/cervical and ovarian/fallopian tube carcinoma: a genome-wide mutation analysis. | Li L et al. | — | 2025 | → |
| Synonymous and non-synonymous variants at splice junctions can disrupt splicing and are frequently linked to disease associated loss of function genes. | Srinivasan S et al. | — | 2025 | → |
| T330M Substitution in the Sodium-Dependent Phosphate Transporter NaPi2b Abolishes the Efficacy of Monoclonal Antibodies Against MX35 Epitope. | Bulatova LF et al. | — | 2025 | → |
| Targeted long-read nanopore sequencing as a complementary approach for detecting STRC variants and distinguishing the STRCP1 pseudogene. | Moteki H et al. | — | 2025 | → |
| Targeting high-risk MYC-overexpressed osteosarcoma with an Aurora kinase inhibitor:--results from a pilot umbrella trial. | Tian K et al. | — | 2025 | → |
| The associations among genetic features, late gadolinium enhancement and prognosis in hypertrophic cardiomyopathy. | Su W et al. | — | 2025 | → |
| The brief resilience scale: a genome-wide association study in the UK Biobank. | Cornelis MC et al. | — | 2025 | → |
| The CNV map construction and ROH analysis of Pinan cattle. | Song X et al. | — | 2025 | → |
| The complex REDUCED COMPLEXITY locus contributes to leaf shape diversification in Brassica rapa. | Li P et al. | — | 2025 | → |
| The Diverse Genetic Landscape of Hearing Impairment in South African Families. | Bharadwaj T et al. | — | 2025 | → |
| The embryonic lethal mutation <i>zyg-10(b261)</i> is an allele of the <i>atx-2</i> gene and disrupts multiple aspects of early embryogenesis. | Bell ZG et al. | — | 2025 | → |
| The Genetic Architecture of the Human Corpus Callosum and its Subregions. | Bhatt RR et al. | — | 2025 | → |
| The Genetic Landscape of Acute Necrotizing Encephalopathy: Insights Into the Possible Pathogenesis. | Geng C et al. | — | 2025 | → |
| The Genetic Loci Associated with Fiber Development in Upland Cotton (<i>Gossypium hirsutum</i> L.) Were Mapped by the BSA-Seq Technique. | Yang Y et al. | — | 2025 | → |
| The genetic polymorphism of XPR1 associated with Fanconi syndrome in Chinese patients with X-linked hypophosphatemia. | Han S et al. | — | 2025 | → |
| The genetic spectrum features of 2261 Chinese children with epilepsy and intellectual disability. | Pang N et al. | — | 2025 | → |
| The genomic landscape of relapsed infant and childhood KMT2A-rearranged acute leukemia. | Ahlgren L et al. | — | 2025 | → |
| The Germline and Somatic Origins of Prostate Cancer Heterogeneity. | Yamaguchi TN et al. | — | 2025 | → |
| The impact of tislelizumab immunotherapy on multiple primary lung cancer presenting as ground-glass nodules: preliminary results analysis from a single-arm, phase II trial. | Wu J et al. | — | 2025 | → |
| The interictal transcriptomic map of migraine without aura. | Petschner P et al. | — | 2025 | → |
| The molecular characterization of seven novel GLI family zinc finger 3 (<i>GLI3</i>) variants in Chinese families with limb malformations. | Tao S et al. | — | 2025 | → |
| The mutational landscape and actionable targets of gallbladder cancer: an ancestry-informed and comparative analysis of a Chilean population. | Erices JI et al. | — | 2025 | → |
| The PeachSNP170K array facilitates insights into a large-scale population relatedness and genetic impacts on citrate content and flowering time. | Xu Y et al. | — | 2025 | → |
| The PIK3CA/AKT pathway drives therapy resistance in rhabdomyosarcoma. | Yang Q et al. | — | 2025 | → |
| The Promise of Exome Sequencing for the Differential Diagnosis of Late-Onset End-Stage Renal Disease in Turkish Cypriots. | Kazan HH et al. | — | 2025 | → |
| The Role of RB1 and Secondary Genomic Changes in the Development of Spindle Cell and Pleomorphic Lipomas. | Hellberg M et al. | — | 2025 | → |
| The Taiwan Precision Medicine Initiative provides a cohort for large-scale studies. | Yang HC et al. | — | 2025 | → |
| The wheat transcription factor Q functions in gibberellin biosynthesis and signaling and regulates height and spike length. | Liu P et al. | — | 2025 | → |
| Thrombotic risk determined by <i>ABO</i>, <i>F8</i>, and <i>VWF</i> variants in a population-based cohort study. | Manderstedt E et al. | — | 2025 | → |
| Titin-Truncating variants predispose to dilated cardiomyopathy in populations genetically similar to african and european reference populations. | DePaolo J et al. | — | 2025 | → |
| TMEM175, SCARB2 and CTSB associations with Parkinson's disease risk across populations. | Sun W et al. | — | 2025 | → |
| To be or not to be a protein coding mutation, that's the question! | De Groote D et al. | — | 2025 | → |
| Topoisomerase IIb binding delineates localized mutational processes and driver mutations in cancer genomes. | Uusküla-Reimand L et al. | — | 2025 | → |
| Towards improved fine-mapping of candidate causal variants. | Li Z et al. | — | 2025 | → |
| Toward streamline variant classification: discrepancies in variant nomenclature and syntax for ClinVar pathogenic variants across annotation tools. | Chen YA et al. | — | 2025 | → |
| TQB2450 plus intensity-modulated radiotherapy in recurrent nasopharyngeal carcinoma: An open-label, single-arm, phase II trial. | Xia TL et al. | — | 2025 | → |
| Tracing metastatic spread in pediatric solid tumors using copy number and targeted deep sequencing. | Andersson N et al. | — | 2025 | → |
| Trans-ancestry GWAS identifies 59 loci and improves risk prediction and fine-mapping for kidney stone disease. | Cao X et al. | — | 2025 | → |
| Transcript isoform diversity defines molecular subtypes and prognosis in acute myeloid leukemia through long-read sequencing. | Shi X et al. | — | 2025 | → |
| Transcriptome-wide N6-methyladenosinem modifications analysis of chicken cecum in responding to <i>Campylobacter jejuni</i> inoculation. | Zhao Y et al. | — | 2025 | → |
| Transposon Dynamics Drive Genome Evolution and Regulate Genetic Mechanisms of Agronomic Traits in Cotton. | Dong Z et al. | — | 2025 | → |
| Tumor cell heterogeneity drives spatial organization of the intratumoral immune response. | Tanaka M et al. | — | 2025 | → |
| Tumor evolution and immune microenvironment dynamics in primary and relapsed mantle cell lymphoma. | Wan H et al. | — | 2025 | → |
| Tumor microenvironment-preserving gliosarcoma organoids as an in vitro preclinical platform: a comparative analysis with glioblastoma models. | Park J et al. | — | 2025 | → |
| UCP3 gene variants and obesity in a Pakistani sample population. | Bhatti AA et al. | — | 2025 | → |
| Uncovering the genetic landscape of soybean accessions from Kazakhstan in comparison with global germplasm using whole genome resequencing. | Zatybekov A et al. | — | 2025 | → |
| Uncovering the Role of DNA Repair Impairment in UVA-Induced Mutagenesis in Human Xeroderma Pigmentosum Variant Cells. | Corradi C et al. | — | 2025 | → |
| Unlocking growth potential in Wenchang chickens: A 21 K genotyping array for trait-associated structural variations. | Wang C et al. | — | 2025 | → |
| Unraveling genetic etiologies in complex pediatric neurological diseases: A genetic investigation using whole exome sequencing. | Gaouzi Z et al. | — | 2025 | → |
| Unraveling genetic risk contributions to nonverbal status in autism spectrum disorder probands. | Liu H et al. | — | 2025 | → |
| Unraveling the genetic basis of maize ear diameter in a multi-parent RIL population derived from tropical and temperate germplasms. | Yang X et al. | — | 2025 | → |
| Unraveling the genetic diversity and adaptive traits of laboratory pig breeds within the perspective of whole - genome resequencing. | Yuan H et al. | — | 2025 | → |
| Unraveling the Shared Genetic Architecture and Polygenic Overlap Between Loneliness, Major Depressive Disorder, and Sleep-Related Traits. | Rehman Z et al. | — | 2025 | → |
| Unraveling the shared genetic foundations of neurodevelopmental and psychiatric disorders: Insights from comprehensive genome-wide analyses. | Maimaiti A et al. | — | 2025 | → |
| Unsupervised machine learning integrates genomic variants and EMR to unravel mechanisms of brain hemorrhage and epilepsy as early indicators of Alzheimer's in down syndrome. | Liu Y et al. | — | 2025 | → |
| Unveiling genetic and biological links: exploring the intersection of autoimmune and psychiatric disorders. | Liwayiding A et al. | — | 2025 | → |
| Unveiling Novel and Rare Variants in the <i>α-1,4-Galactosyltransferase</i> Gene Leading to Rare p Phenotype in Indian Patients. | Kshirsagar P et al. | — | 2025 | → |
| Unveiling the heterosis pattern of modern maize breeding in Southwest China through population structure and genetic diversity analysis. | Ma P et al. | — | 2025 | → |
| Using Whole-Genome Sequencing Data Reveals the Population Structure and Selection Signatures for Reproduction Traits in Duolang Sheep. | Wang K et al. | — | 2025 | → |
| USP7 alterations are associated with a poor survival in pediatric T-cell acute lymphoblastic leukemia. | Illarregi U et al. | — | 2025 | → |
| Uterine Sarcomas With Recurrent KDM2B Gene Fusions: Three Cases of a Possible Novel Subtype of High-Grade Endometrial Stromal Sarcoma. | Devins KM et al. | — | 2025 | → |
| Variable efficiency of nonsense-mediated mRNA decay across human tissues, tumors and individuals. | Palou-Márquez G et al. | — | 2025 | → |
| Variable Phenotypic Expression of <i>PAX2</i> Variants in Two Lithuanian Families with Kidney Disease. | Brazdziunaite D et al. | — | 2025 | → |
| Variant calling from RNA-Seq data reveals allele-specific differential expression of pathogenic cancer variants. | Bollas A et al. | — | 2025 | → |
| Variants in BSN, encoding the presynaptic protein Bassoon, result in a distinct neurodevelopmental disorder with a broad phenotypic range. | Guzman SG et al. | — | 2025 | → |
| VGLL fusions define a new class of intraparenchymal central nervous system schwannoma. | Schmid S et al. | — | 2025 | → |
| Whole-exome sequencing for identification of specific gene mutations in an Indian cohort of triple-negative breast cancer patients. | Preeti P et al. | — | 2025 | → |
| Whole Exome Sequencing for the Identification of Mutations in Bone Marrow CD34+Cells in Hodgkin Lymphoma. | Trang PTH et al. | — | 2025 | → |
| Whole Exome Sequencing Helps Diagnose Familial Anophthalmia in Zimbabwe: A Call from the Field to Fund Clinical Genomics for Planetary Health. | Mabizela N et al. | — | 2025 | → |
| Whole exome sequencing identifies FANCM as a susceptibility gene for estrogen-receptor-negative breast cancer in Hispanic/Latina women. | Nierenberg JL et al. | — | 2025 | → |
| Whole-exome sequencing identifies new pathogenic germline variants in patients with colorectal polyposis. | Dos Santos W et al. | — | 2025 | → |
| Whole exome sequencing identifies rare variants involved in PPIX-metabolizing pathway in anti-TB drug-induced hepatitis. | Wu Y et al. | — | 2025 | → |
| Whole-exome sequencing in children with dyslexia implicates rare variants in CLDN3 and ion channel genes. | Marianski K et al. | — | 2025 | → |
| Whole-exome sequencing of FFPE samples reveals mutations associated with Luminal A breast cancer recurrence. | Lv K et al. | — | 2025 | → |
| Whole exome sequencing shows novel COL4A3 and COL4A4 variants as causes of Alport syndrome in Rio Grande do Norte, Brazil. | de Araújo WC et al. | — | 2025 | → |
| Whole exome sequencing study of adamantinomatous craniopharyngioma reveals the mutational characteristics of recurrent cases. | Chen D et al. | — | 2025 | → |
| Whole-exome sequencing study of opioid dependence offers novel insights into the contributions of exome variants. | Wang L et al. | — | 2025 | → |
| Whole Genome Insights into Genetic Diversity, Introgression, and Adaptation of Hunan Cattle. | Li Y et al. | — | 2025 | → |
| Whole-Genome Resequencing Analysis Reveals the Local Ancestry and Selection of Kongshan Cattle. | Bai M et al. | — | 2025 | → |
| Whole Genome Resequencing of 205 Avocado Trees Unveils the Genomic Patterns of Racial Divergence in the Americas. | Cañas-Gutiérrez GP et al. | — | 2025 | → |
| Whole-genome resequencing revealed genetic structure and specific breed identification loci of Ningxia Jingyuan chicken breed (Gallus gallus). | Yue YX et al. | — | 2025 | → |
| Whole-genome resequencing reveals genetic diversity and selection signatures of Tongjiang and five goat breeds. | Zhan S et al. | — | 2025 | → |
| Whole genome resequencing reveals genetic diversity, population structure, and selection signatures in local duck breeds. | Ren P et al. | — | 2025 | → |
| Whole-genome resequencing reveals genetic evolution of honeybees (Apis cerana) in high-altitude and overwintering adaptation. | Li F et al. | — | 2025 | → |
| Whole genome resequencing reveals genetic markers for plumage colour in Jingyuan Chicken. | Yang L et al. | — | 2025 | → |
| Whole genome resequencing reveals genetic relationships and differences between three types of Hainan local pig breeds. | Yan J et al. | — | 2025 | → |
| Whole-genome resequencing reveals positive selection and introgression signatures and genetic loci associated with early puberty traits in Chinese indigenous pigs. | Cao M et al. | — | 2025 | → |
| Whole-genome resequencing reveals the genetic diversity, population structure and selection signatures in Chinese indigenous Kele pigs. | Zhu Y et al. | — | 2025 | → |
| Whole-genome resequencing to investigate the genetic diversity and the molecular basis underlying key economic traits in indigenous sheep breeds adapted to hypoxic environments. | Tian D et al. | — | 2025 | → |
| Whole genome resequencing uncovers candidate genes related to plumage color in Yuexi frizzled feather chicken. | Peng S et al. | — | 2025 | → |
| Whole-genome resequencing uncovers population structure and candidate molecular markers for litter size in hetian sheep. | Liu B et al. | — | 2025 | → |
| Whole-genome resequencing unveils the phylogeographic coevolution of Oncomelania hupensis with Yangtze River dynamics in China. | Duan L et al. | — | 2025 | → |
| Whole genome sequences of 297 Duolang sheep for litter size. | Fang C et al. | — | 2025 | → |
| Whole-genome Sequencing Association Analysis of Quantitative Platelet Traits in A Large Cohort of β-thalassemia. | Wang X et al. | — | 2025 | → |
| Whole genome sequencing identifies pathogenic genetic variants in Han Chinese patients with familial venous thromboembolism. | Zhang Z et al. | — | 2025 | → |
| Whole Genome Sequencing in 25 Families with Suspected Inborn Errors of Immunity: Diagnostic Yield and Clinical Relevance of Genome-wide Analysis. | Lee JK et al. | — | 2025 | → |
| Whole genome sequencing informs SNP-based breeding strategies to safeguard genetic diversity in captive African lions. | Chen W et al. | — | 2025 | → |
| Whole-Genome Sequencing of 54 Dengchuan Cattle (Bos taurus) from Southwest China. | Feng KJ et al. | — | 2025 | → |
| Whole-genome sequencing of 56 Yunling goats and 21 Nubian goats. | Feng KJ et al. | — | 2025 | → |
| Whole genome sequencing revealed esophageal squamous cell carcinoma related biomarkers. | Li M et al. | — | 2025 | → |
| Whole-Genome Sequencing Unveils the Uniqueness of Yushu Yaks (<i>Bos grunniens</i>). | Cai B et al. | — | 2025 | → |
| Whole-genome variant of 220 Tibetan sheep from the Qinghai-Tibetan Plateau. | Lu Z et al. | — | 2025 | → |
| Whole methylomes reveal high-altitude-associated methylation at hypoxia and pigmentation genes in South American Indigenous populations. | Pryor Y et al. | — | 2025 | → |
| X-LDR: an atlas of linkage disequilibrium across species. | Zhu TN et al. | — | 2025 | → |
| Xylose Metabolism Perturbation in Yarrowia lipolytica for Efficient Succinic Acid Bioproduction from Lignocellulosic Biomass. | Zhong Y et al. | — | 2025 | → |
| YAP1::MAML2, YAP1::NUTM1, and RNF13::PAK2 rearrangements in trichoblastomas and adnexal tumors with panfollicular differentiation: expanding the spectrum of YAP1/PAK-fused skin adnexal tumors. | Kervarrec T et al. | — | 2025 | → |
| Y chromosome variation and prostate cancer ancestral disparities. | Soh PXY et al. | — | 2025 | → |