dbSNP: the NCBI database of genetic variation.
paper
Cited
Public
Unavailable
- Authors
- Sherry, S T; Ward, M H; Kholodov, M; Baker, J; Phan, L; Smigielski, E M; Sirotkin, K
- Year
- 2001
- Journal
- Nucleic acids research
- PMID
- 11125122
- DOI
- 10.1093/nar/29.1.308
- PMCID
- PMC29783
In response to a need for a general catalog of genome variation to address the large-scale sampling designs required by association studies, gene mapping and evolutionary biology, the National Center for Biotechnology Information (NCBI) has established the dbSNP database [S.T.Sherry, M.Ward and K. Sirotkin (1999) Genome Res., 9, 677-679]. Submissions to dbSNP will be integrated with other sources of information at NCBI such as GenBank, PubMed, LocusLink and the Human Genome Project data. The complete contents of dbSNP are available to the public at website: http://www.ncbi.nlm.nih.gov/SNP. The complete contents of dbSNP can also be downloaded in multiple formats via anonymous FTP at ftp://ncbi.nlm.nih.gov/snp/.
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| Genetic characteristics associated with isolated Microtia revealed through whole exome sequencing of 201 pedigrees. | Wu S et al. | — | 2025 | → |
| Genetic Diversity and Mutation Frequency Databases in Ethnic Populations: Systematic Review. | Khan S et al. | — | 2025 | → |
| Genetic/epigenetic DNA markers for linking suspects and tissues in complex crime scenes. | Mizrachi R et al. | — | 2025 | → |
| Genetic Insights into Hemiplegic Migraine: Whole Exome Sequencing Highlights Vascular Pathway Involvement via Association Analysis. | Molaee Z et al. | — | 2025 | → |
| Genetic Loci Associated with Nail Plate Morphology in East Asian Populations. | Ge J et al. | — | 2025 | → |
| Genetics of constant and severe pain in the NAPS2 cohort of recurrent acute and chronic pancreatitis patients. | Dunbar EK et al. | — | 2025 | → |
| Genetic variability associates with ancestry, age at disease onset, organ involvement and disease severity in juvenile-onset systemic lupus erythematosus. | Natoli V et al. | — | 2025 | → |
| Genetic Variants Associated With Congenital Heart Disease: A Meta-Analysis of Ethnicity and Subtype-Specific Susceptibility. | Chon HS et al. | — | 2025 | → |
| Genetic variants of LncRNA associated with splicing regulation and their impact on ovarian cancer development. | Zou L et al. | — | 2025 | → |
| Genetic variation in RYR1 is associated with heart failure progression and mortality in a diverse patient population. | Guerra LA et al. | — | 2025 | → |
| Genetic variations and recurrence in stage III Korean colorectal cancer: Insights from tumor-only mutation analysis. | Jeon H et al. | — | 2025 | → |
| Genetic Variations in the P2X7 Receptor: Opportunities and Challenges for Drug Development. | Cheah JSY et al. | — | 2025 | → |
| Genome biology of long non-coding RNAs in humans: A virtual karyotype. | Palma A et al. | — | 2025 | → |
| Genome diversity and signatures of natural selection in mainland Southeast Asia. | He Y et al. | — | 2025 | → |
| Genome-Wide Association Studies for Lactation Performance in Buffaloes. | Li W et al. | — | 2025 | → |
| Genome-wide association study and HLA genotyping for beryllium disease susceptibility in a European descent population. | Liao SY et al. | — | 2025 | → |
| Genome-wide association study on color-image-based convolutional neural networks. | Liu HM et al. | — | 2025 | → |
| Genome-wide functional annotation of variants: a systematic review of state-of-the-art tools, techniques and resources. | Pilalis E et al. | — | 2025 | → |
| Genome-Wide Study of the UK Biobank Highlights the Importance of the Homeobox-C Gene Cluster in Hip Fracture Risk. | Koizia LJ et al. | — | 2025 | → |
| Genomic Insights into Opioid Addiction: Identification of genomic variants from Gene Expression data | Ajmeriya S et al. | — | 2025 | — |
| Genomic landscape of cancer driver genes in Omani breast cancers: a pilot study. | Al Dlali M et al. | — | 2025 | → |
| Genomic profiling of a six-generation patrilineal family of the Ming-Qing dynasties in China. | Wang J et al. | — | 2025 | → |
| Genomic Profiling of Driver Gene Alterations in Patients With Non-Small Cell Lung Cancer, Patterns of Treatment and Impact on Survival Outcomes: A Single Center Experience of More Than 1200 Patients. | Shah M et al. | — | 2025 | → |
| GPBSO: Gene Pool-Based Brain Storm Optimization for SNP Epistasis Detection. | Sun L et al. | — | 2025 | → |
| GrameneOryza: a comprehensive resource for Oryza genomes, genetic variation, and functional data. | Wei S et al. | — | 2025 | → |
| GRL-PUL: predicting microbe-drug association based on graph representation learning and positive unlabeled learning. | Liang J et al. | — | 2025 | → |
| GRM1 as a Candidate Gene for Buffalo Fertility: Insights from Genome-Wide Association Studies and Its Role in the FOXO Signaling Pathway. | Li W et al. | — | 2025 | → |
| HAFMMDA: HIN2vec-Based Attentional Factorization Machines for Predicting Microbe-Drug Associations. | Wang B et al. | — | 2025 | → |
| Halfpipe: a tool for analyzing metabolic labeling RNA-seq data to quantify RNA half-lives. | Müller JM et al. | — | 2025 | → |
| HemaCisDB: An Interactive Database for Analyzing Cis-regulatory Elements Across Hematopoietic Malignancies. | Cai X et al. | — | 2025 | → |
| High-fidelity and differential nonsense suppression in live cells and a frontotemporal dementia allele with human transfer RNAs. | Beharry A et al. | — | 2025 | → |
| High precision characterization of RCCX rearrangements in a 21-hydroxylase deficiency Latin American cohort using oxford nanopore long read sequencing. | Claps A 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 high-risk non-synonymous SNPs (nsSNPs) in DNAH1 and DNAH17 genes associated with male infertility: a bioinformatics analysis. | Navapour L et al. | — | 2025 | → |
| Identification of MAPK10 as a Candidate Gene for High Milk Production in Water Buffaloes Through a Genome-Wide Association Study. | Li W et al. | — | 2025 | → |
| Identification of molecular and cellular infection response biomarkers associated with anthrax infection through comparative analysis of gene expression data. | Rani S et al. | — | 2025 | → |
| Identification of variants from gene expression data of opioid-addicted patients. | Ajmeriya S et al. | — | 2025 | → |
| Imaging flow cytometry-based cellular screening elucidates pathophysiology in individuals with Variants of Uncertain Significance. | Muffels IJJ et al. | — | 2025 | → |
| Impact of missense mutations on the structure-function relationship of human succinyl-CoA synthetase using in silico analysis. | Elabed S et al. | — | 2025 | → |
| Impact of Pharmacogenetics on High-Dose Methotrexate Toxicity in Pediatric Oncology. | Marangoni-Iglecias LM et al. | — | 2025 | → |
| Impact of polymorphisms on gene expression and splicing in response to exercise and diet-induced weight loss in human skeletal muscle tissues. | Wang W et al. | — | 2025 | → |
| Increasing pathogenic germline variant diagnosis rates in precision medicine: current best practices and future opportunities. | Dukda S et al. | — | 2025 | → |
| Influence of HLA-B Leader (-21M/T) Dimorphism With Bw4/Bw6 Epitopes on Graft Versus Host Disease After Allogenic Haematopoietic Stem Cell Transplantation in North Indians. | Agarwal D et al. | — | 2025 | → |
| Insights into Caspase-6 Mutations and Neuropathology in Huntington's Disease and Psychiatric Disorders: A Structural Genomics and Drug Repurposing Approach. | Hakami MA et al. | — | 2025 | → |
| Insights into Convergent Evolution From Studying Amino Acid Patterns in Independent Lineages of Birds. | Lee C et al. | — | 2025 | → |
| Insights into Missense SNPs on Amyloidogenic Proteins. | Galanis FP et al. | — | 2025 | → |
| In silico report on five high-risk protein C pathogenic variants: G403R, P405S, S421N, C238S, and I243T. | Hristov D et al. | — | 2025 | → |
| Integrated Analysis of Somatic DNA Variants and DNA Methylation of Tumor Suppressor Genes in Colorectal Cancer. | Nishiki H et al. | — | 2025 | → |
| Integrating extensive functional annotations and multiomics of cattle enhances climate resilience prediction and mapping. | Xiang R 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 Whole-Genome Sequencing Analysis with Unique Patient-Derived Models Reveals Clinically Relevant Drug Targets in TFCP2 Fusion-Defined Rhabdomyosarcoma. | Bergsma P et al. | — | 2025 | → |
| Intronic branchpoint-to-acceptor variants underlying inborn errors of immunity. | Alioua N et al. | — | 2025 | → |
| Is a rare <i>CXCL8</i> gene variant a new possible cause or course factor of inflammatory bowel disease? | Gabryel M et al. | — | 2025 | → |
| Isolated Lateralized Overgrowth - Phenotypic Spectrum and Molecular Alterations. | Yadav S et al. | — | 2025 | → |
| Isolation and Characterization of the Adamantinomatous Craniopharyngioma Primary Cells with Cancer-Associated Fibroblast Features. | Chen D et al. | — | 2025 | → |
| KGG: a fully automated workflow for creating disease-specific knowledge graphs. | Karki R et al. | — | 2025 | → |
| Kidney multiome-based genetic scorecard reveals convergent coding and regulatory variants. | Liu H et al. | — | 2025 | → |
| Knowledge of the genetics of human pain gained over the last decade from next-generation sequencing. | Kringel D et al. | — | 2025 | → |
| Lack of association between genetic variations in <i>CYP3A5</i> and blood pressure or hypertension risk in the UK biobank. | Leibold P et al. | — | 2025 | → |
| Language Modelling Techniques for Analysing the Impact of Human Genetic Variation. | Hegde M et al. | — | 2025 | → |
| Leveraging digital pathology and AI to transform clinical diagnosis in developing countries. | Del Valle AC | — | 2025 | → |
| Leveraging transformers for semi-supervised pathogenicity prediction with soft labels. | Guillem PE et al. | — | 2025 | → |
| Life tables data collection in entomology: an overview on the differential and the integral representation and proposal for a standard electronic file. | Rossini L et al. | — | 2025 | → |
| LIMK1 variants are associated with divergent endocrinological phenotypes and altered exocytosis dynamics. | Muffels IJJ et al. | — | 2025 | → |
| Long intergenic non-coding RNA 00511 (LINC00511) genetic variations and haplotype implication for colorectal cancer susceptibility and prognosis. | Sanad EF et al. | — | 2025 | → |
| Long-read sequencing reveals novel genetic polymorphisms in the major histocompatibility complex region and their impacts on the Han Chinese population. | Zhou C et al. | — | 2025 | → |
| Loss of miRNA-Mediated VEGFA Regulation by SNP-Induced Impairment: A Bioinformatic Analysis in Diabetic Complications. | Freitas R et al. | — | 2025 | → |
| M6Allele: a toolkit for detection of allele-specific RNA N6-methyladenosine modifications. | Zhang Y et al. | — | 2025 | → |
| Machine learning in Alzheimer's disease genetics. | Bracher-Smith M et al. | — | 2025 | → |
| Major-depressive-disorder-associated dysregulation of ZBTB7A in orbitofrontal cortex promotes astrocyte-mediated stress susceptibility. | Fulton SL et al. | — | 2025 | → |
| Mapping the genetic landscape establishing a tumor immune microenvironment favorable for anti-PD-1 response. | Skelly DA et al. | — | 2025 | → |
| MarkerDB 2.0: a comprehensive molecular biomarker database for 2025. | Jackson H et al. | — | 2025 | → |
| MED12 mutation induces RTK inhibitor resistance in NSCLC via MEK/ERK pathway activation by inflammatory cytokines. | Ryu HM et al. | — | 2025 | → |
| Meta-analysis reveals differences in somatic alterations by genetic ancestry across common cancers. | Amuzu S et al. | — | 2025 | → |
| Methylome analysis of FTLD patients with TDP-43 pathology identifies epigenetic signatures specific to pathological subtypes. | Vicente CT et al. | — | 2025 | → |
| miRTarBase 2025: updates to the collection of experimentally validated microRNA-target interactions. | Cui S et al. | — | 2025 | → |
| m<sup>6</sup>A-mRNA Reader YTHDF2 Identified as a Potential Risk Gene in Autism With Disproportionate Megalencephaly. | Nishizaki SS 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 dynamics simulations of perforin mutations associated with familial hemophagocytic lymphohistiocytosis type 2 among Indian patients. | Narayan AB et al. | — | 2025 | → |
| MOV&RSim: computational modelling of cancer-specific variants and sequencing reads characteristics for realistic tumoral sample simulation. | Longhin F et al. | — | 2025 | → |
| Moving Toward Metaproteogenomics: A Computational Perspective on Analyzing Microbial Samples via Proteogenomics. | Singer F 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 reveals the attenuation of the interferon pathway as a driver of chemo-refractory ovarian cancer. | Afenteva D et al. | — | 2025 | → |
| Multiple Mutations-A Genetic Marker for Extracapsular Spread in Human Papillomavirus/p16-Positive Oropharyngeal Carcinoma. | Graessle R et al. | — | 2025 | → |
| Mutational landscape of triple-negative breast cancer in African American women. | Yao S et al. | — | 2025 | → |
| Mutations of schizophrenia risk gene SETD1A dysregulate synaptic function in human neurons. | Su X et al. | — | 2025 | → |
| NCBI RefSeq: reference sequence standards through 25 years of curation and annotation. | Goldfarb T et al. | — | 2025 | → |
| New insights into the genetic progression of cancer through longitudinal analysis of oral lesions. | Wils LJ et al. | — | 2025 | → |
| Next generation DNA sequencing data analysis and its application in clinical genomics. | Beura A et al. | — | 2025 | → |
| NIAGADS: A data repository for Alzheimer's disease and related dementia genomics. | Kuzma A et al. | — | 2025 | → |
| Nivolumab plus chemotherapy or ipilimumab in gastroesophageal cancer: exploratory biomarker analyses of a randomized phase 3 trial. | Shitara K et al. | — | 2025 | → |
| NOD2 and Crohn's Disease Clinical Practice: From Epidemiology to Diagnosis and Therapy, Rewired. | Kayali S et al. | — | 2025 | → |
| Non-APOE variants predominately expressed in smooth muscle cells contribute to the influence of Alzheimer's disease genetic risk on white matter hyperintensities. | Chandler HL et al. | — | 2025 | → |
| Novel Compound Heterozygous Mutations of LIG4 Gene in an Indian <i>LIG4</i> Syndrome Patient with Severe Microcephaly: Case Report, <i>In-silico</i> Analysis and Systematic Review. | Singh A et al. | — | 2025 | → |
| Novel CTNNB1 gene mutations reveal critical pathogenic mechanisms in pediatric hepatoblastoma. | Kumar S et al. | — | 2025 | → |
| Oncogenic pathway landscape of ovarian cancer and correlation with clinical prognosis. | Lee YJ et al. | — | 2025 | → |
| Oncological Treatment Adverse Reaction Prediction: Development and Initial Validation of a Pharmacogenetic Model in Non-Small-Cell Lung Cancer Patients. | Cafiero C et al. | — | 2025 | → |
| Oncolytic immunotherapy with nivolumab in muscle-invasive bladder cancer: a phase 1b trial. | Li R et al. | — | 2025 | → |
| Onkopus: precise interpretation and prioritization of sequence variants for biomedical research and precision medicine. | Kurz NS et al. | — | 2025 | → |
| Optical genome and epigenome mapping of clear cell renal cell carcinoma. | Margalit S et al. | — | 2025 | → |
| p53motifDB: integration of genomic information and tumour suppressor p53 binding motifs. | Baniulyte G et al. | — | 2025 | → |
| PaRPI predicts RNA-Protein interactions from cross-protocol and cross-batch RNA-binding protein datasets. | Peng L et al. | — | 2025 | → |
| Pathogenic variants reveal candidate genes for prostate cancer germline testing for men of African ancestry. | Gheybi K et al. | — | 2025 | → |
| PathVar: A Customisable NGS Variant Calling Algorithm Implicates Novel Candidate Genes and Pathways in Hemiplegic Migraine. | Alfayyadh MM et al. | — | 2025 | → |
| Pathway Analysis and Genetic Markers in Parkinson's Disease: Insights into Subtype-Specific Mechanisms. | Horoufi ST et al. | — | 2025 | → |
| Performance comparison of four exome capture platforms on DNBSEQ-Series high throughput sequencer. | Li M et al. | — | 2025 | → |
| Personalized and Tumor Informed Circulating Tumor DNA Assay for Molecular Residual Disease Monitoring of Solid Malignancies. | Liu L et al. | — | 2025 | → |
| Pivotal Role of miRNA-lncRNA Interactions in Human Diseases. | Pooresmaeil F et al. | — | 2025 | → |
| Playbook workflow builder: Interactive construction of bioinformatics workflows. | Clarke DJB et al. | — | 2025 | → |
| Population-level allelic dispersion modeling by maelstRom yields genome-wide maps of allele-specific dysregulation during early carcinogenesis. | Stroobandt C et al. | — | 2025 | → |
| Positive Selection Shapes Breast Cancer Tumor Suppressor Genes: Unveiling Insights into BRCA1, BRCA2, and MDC1 Stability. | Fadel YM et al. | — | 2025 | → |
| Postzygotic mosaicism in SMC1A and the first reported case of a female with Cornelia de Lange syndrome. | Gil-Salvador M et al. | — | 2025 | → |
| Predicting high-risk clinical missense variants of SMARCB1 in rare neurogenetic disorder schwannomatosis (nerve tumor) through sequence, structure, and molecular dynamics analyses. | Patel M et al. | — | 2025 | → |
| Predisposition Footprints in the Somatic Genome of Wilms Tumors. | Treger TD 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 | → |
| Prognostic impact of caspase-8 mutation in oral cavity squamous cell carcinoma. | Lu HJ et al. | — | 2025 | → |
| Proxy panels enable privacy-aware outsourcing of genotype imputation. | Zhi D et al. | — | 2025 | → |
| Quantifying the mutational landscape of retroviral and lentiviral vectors in gene therapy patients. | Hart KL et al. | — | 2025 | → |
| Rare variant genetic landscape of familial chylomicronemia syndrome (FCS) in the United Kingdom. | Bashir B et al. | — | 2025 | → |
| RBC-GEM: A genome-scale metabolic model for systems biology of the human red blood cell. | Haiman ZB et al. | — | 2025 | → |
| Recurrent spontaneous miscarriages from sperm after ABVD chemotherapy in a patient with Hodgkin's lymphoma: sperm DNA and methylation profiling. | Lecuyer G et al. | — | 2025 | → |
| regionalpcs improve discovery of DNA methylation associations with complex traits. | Eulalio T et al. | — | 2025 | → |
| Regulatory SNP of TERT promoter accompanied by C228T and <i>BRAFV</i> <sup>600E</sup> is an exacerbating factor of papillary thyroid carcinoma. | Nakazato Y et al. | — | 2025 | → |
| Resolving spatial subclonal genomic heterogeneity of loss of heterozygosity and extrachromosomal DNA in gliomas. | Webb MG et al. | — | 2025 | → |
| REST missense mutations reveal disrupted Re1 motif binding and co-repressor interactions in uterine fibroids. | Sriram S et al. | — | 2025 | → |
| RHCE genotyping using next generation sequencing: Allele specific reference sequences. | Tounsi WA et al. | — | 2025 | → |
| Risk Prediction of RNA Off-Targets of CRISPR Base Editors in Tissue-Specific Transcriptomes Using Language Models. | Nakamae K et al. | — | 2025 | → |
| RMVar 2.0: an updated database of functional variants in RNA modifications. | Huang Y et al. | — | 2025 | → |
| SAI: A Python Package for Statistics for Adaptive Introgression. | Huang X et al. | — | 2025 | → |
| sc2GWAS: a comprehensive platform linking single cell and GWAS traits of human. | Yin M et al. | — | 2025 | → |
| Scalable screening of ternary-code DNA methylation dynamics associated with human traits. | Goldberg DC et al. | — | 2025 | → |
| scooby: modeling multimodal genomic profiles from DNA sequence at single-cell resolution. | Hingerl JC et al. | — | 2025 | → |
| Screening of Germline BRCA1 and BRCA2 Variants in Nigerian Breast Cancer Patients. | Onyia AF et al. | — | 2025 | → |
| scTML: a pan-cancer single-cell landscape of multiple mutation types. | Li H et al. | — | 2025 | → |
| scTWAS Atlas: an integrative knowledgebase of single-cell transcriptome-wide association studies. | Mai J et al. | — | 2025 | → |
| Sequence-based GWAS in 180,000 German Holstein cattle reveals new candidate variants for milk production traits. | Križanac AM et al. | — | 2025 | → |
| Sequential omics analysis reveals molecular signatures of malignant transformation in recurrent meningiomas. | Ohara K et al. | — | 2025 | → |
| Sex-Biased Admixture Followed by Isolation and Adaptive Evolution Shaped the Genomic and Blood Pressure Diversity of the LopNur People. | Wen J et al. | — | 2025 | → |
| Single-cell data combined with phenotypes improves variant interpretation. | Chapman T et al. | — | 2025 | → |
| Single nucleotide polymorphism (SNP) characterisation of mouse inbred strains bred at MRC-National Institute for Medical Research. | Sánchez-Morgado JM | — | 2025 | → |
| Single-Nucleotide Polymorphisms (SNPs) in Vitamin D Physiology Genes May Modulate Serum 25(OH)D Levels in Well-Trained CrossFit<sup>®</sup> Athletes, Which May Be Associated with Performance Outcomes. | Fernández-Lázaro D et al. | — | 2025 | → |
| Soma-localized Rab39 inhibits synaptic autophagy by controlling trafficking of Atg9 vesicles. | Kilic A et al. | — | 2025 | → |
| Spatial profiling of human pancreatic ductal adenocarcinoma reveals molecular alterations associated with venous invasion. | Bell ATF et al. | — | 2025 | → |
| Spectrum and Clinical Interpretation of <i>TTN</i> Variants in Ecuadorian Patients with Heart Disease: Insights into VUS and Likely Pathogenic Variants. | Guevara-Ramírez P et al. | — | 2025 | → |
| Sperm sequencing reveals extensive positive selection in the male germline. | Neville MDC et al. | — | 2025 | → |
| STAC3 disorder: a common cause of congenital hypotonia in Southern African patients. | Essop F et al. | — | 2025 | → |
| Statistical framework for calling allelic imbalance in high-throughput sequencing data. | Buyan A et al. | — | 2025 | → |
| Stratification by Mutational Landscape Reveals Differential Immune Infiltration and Predicts the Recurrence and Clinical Outcome of Cervical Cancer. | Gao C et al. | — | 2025 | → |
| stSNV: a comprehensive resource of SNVs in spatial transcriptome. | Yang C et al. | — | 2025 | → |
| Systematic identification of minor histocompatibility antigens predicts outcomes of allogeneic hematopoietic cell transplantation. | Cieri N et al. | — | 2025 | → |
| TET2 gene mutation status associated with poor prognosis of transition zone prostate cancer: a retrospective cohort study based on whole exome sequencing and machine learning models. | Wang Y et al. | — | 2025 | → |
| The APOL1 p.N264K variant is co-inherited with the G2 kidney disease risk variant through a proximity recombination event. | Simeone CA et al. | — | 2025 | → |
| The association between APOA1 (rs5069) gene polymorphism and insulin resistance surrogates and metabolic indices among obese individuals with different glycemic statuses (euglycemic and T2DM). | Usama N et al. | — | 2025 | → |
| The Association Between Promoter Tandem Repeat Polymorphism (pVNTR) and CYP2C9 Gene Expression in Human Liver Samples. | Montalvo AD et al. | — | 2025 | → |
| The CALERIE Genomic Data Resource. | Ryan CP et al. | — | 2025 | → |
| The circulating cell-free DNA landscape in sepsis is dominated by impaired liver clearance. | Cano-Gamez K et al. | — | 2025 | → |
| The Consortium for Genomic Diversity, Ancestry, and Health in Colombia (CÓDIGO): building local capacity in genomics and bioinformatics. | Mariño-Ramírez L et al. | — | 2025 | → |
| The Genetic Background of Ankylosing Spondylitis Reveals a Distinct Overlap with Autoimmune Diseases: A Systematic Review. | Zormpa T et al. | — | 2025 | → |
| The Genetic Landscape of Familial Hypercholesterolemia in Telangana, Southern India: Novel Mutations and Clinical Implications. | Garapati S et al. | — | 2025 | → |
| The Germline and Somatic Origins of Prostate Cancer Heterogeneity. | Yamaguchi TN et al. | — | 2025 | → |
| The Health for Life in Singapore (HELIOS) Study: delivering precision medicine research for Asian populations. | Wang X et al. | — | 2025 | → |
| The neuronal chromatin landscape in brains from individuals with schizophrenia is linked to early fetal development. | Girdhar K et al. | — | 2025 | → |
| The pharmacogenomic landscape in the Chinese: An analytics of pharmacogenetic variants in 206,640 individuals. | Wang LY et al. | — | 2025 | → |
| The Pleiotropic Effect of ANRIL in Glaucoma and Cardiovascular Disease. | O'Brien L et al. | — | 2025 | → |
| The proteogenomic landscape of the human kidney and implications for cardio-kidney-metabolic health. | Hirohama D et al. | — | 2025 | → |
| The role of ATG16L1 in Crohn's disease and the structural alteration mechanisms and functional consequences of the rs2241880 variant. | Ren S et al. | — | 2025 | → |
| Toward owner governance in genomic data privacy with Governome. | Zhang J et al. | — | 2025 | → |
| Trans-ancestry transcriptome-wide association and functional studies to uncover novel susceptibility genes and therapeutic targets for colorectal cancer. | Wang L et al. | — | 2025 | → |
| Transcriptomic Analysis of Osmotic Stress-Tolerant Somatic Embryos of <i>Coffea arabica</i> L. Mediated by the Coffee Antisense <i>Trehalase</i> Gene: A Marker-Free Approach. | Valencia-Lozano E et al. | — | 2025 | → |
| Transcriptomic profiling of unmethylated full mutation carriers implicates TET3 in FMR1 CGG repeat expansion methylation dynamics in fragile X syndrome. | Farmiloe G et al. | — | 2025 | → |
| Unaltered 3'-sialyllactose and 6'-sialyllactose concentrations in human milk acutely after endurance exercise: a randomized crossover trial. | Lemoine MCC et al. | — | 2025 | → |
| Understanding the genetic epidemiology of hereditary breast cancer in India using whole genome data from 1029 healthy individuals. | Vatsyayan A et al. | — | 2025 | → |
| Unraveling genetic etiologies in complex pediatric neurological diseases: A genetic investigation using whole exome sequencing. | Gaouzi Z et al. | — | 2025 | → |
| Unraveling the Genetic Link Between Endocrine Hormones and Psychiatric Disorders: An Atlas of Genetic Correlations. | Li JL | — | 2025 | → |
| Unraveling the interconnectedness: A network-based study of type 2 diabetes and its comorbidities. | John TA et al. | — | 2025 | → |
| Unveiling the Digital Evolution of Molecular Tumor Boards. | Lutz S et al. | — | 2025 | → |
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| Validation of the NovaSeq6000 platform and automated library preparation for CE-IVD equivalence. | Pasquinelli E et al. | — | 2025 | → |
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| X-chromosome upregulation operates on a gene-by-gene basis at RNA and protein levels. | Allsop RN et al. | — | 2025 | → |
| 2q33 Deletions Underlying Syndromic and Non-syndromic CTLA4 Deficiency. | Brakta C et al. | — | 2024 | → |
| A Bayesian fine-mapping model using a continuous global-local shrinkage prior with applications in prostate cancer analysis. | Li X et al. | — | 2024 | → |
| Absolute quantitative and base-resolution sequencing reveals comprehensive landscape of pseudouridine across the human transcriptome. | Xu H et al. | — | 2024 | → |
| A case of autoimmune lymphoproliferative syndrome with a novel <i>de novo FAS</i> variant. | Ozcelik F et al. | — | 2024 | → |
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| A Chinese patient with Rothmund-Thomson syndrome. | Zeng J et al. | — | 2024 | → |
| A comprehensive study of mutation and phenotypic heterogeneity of childhood mitochondrial leukodystrophies. | Hosseinpour S et al. | — | 2024 | → |
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| A de novo dominant-negative variant is associated with OTULIN-related autoinflammatory syndrome. | Takeda Y et al. | — | 2024 | → |
| Adiponectin Gene Polymorphisms: A Case-Control Study on Their Role in Late-Onset Alzheimer's Disease Risk. | Javor J et al. | — | 2024 | → |
| Adiponectin rs1501299 and chemerin rs17173608 gene polymorphism in children with type 1 diabetes mellitus: relation with macroangiopathy and peripheral artery disease. | Salah NY et al. | — | 2024 | → |
| Advancing human genotyping: The Infinium HTS iSelect Custom microarray panel (Rita) development study. | Pedroza Matute S et al. | — | 2024 | → |
| A genome-wide association study of neonatal metabolites. | He Q et al. | — | 2024 | → |
| A genome-wide association study on hematopoietic stem cell transplantation reveals novel genomic loci associated with transplant outcomes. | Rosenberger A et al. | — | 2024 | → |
| Aggrecan-related bone disorders; a novel heterozygous ACAN variant associated with spondyloepimetaphyseal dysplasia expanding the phenotypic spectrum and review of literature. | Ahmed HA et al. | — | 2024 | → |
| AI-derived comparative assessment of the performance of pathogenicity prediction tools on missense variants of breast cancer genes. | Ahmad RM et al. | — | 2024 | → |
| A large-scale screening identified in USH2A gene the P3272L founder pathogenic variant explaining familial Usher syndrome in Sardinia, Italy. | Serra R et al. | — | 2024 | → |
| All exons are not created equal-exon vulnerability determines the effect of exonic mutations on splicing. | Holm LL et al. | — | 2024 | → |
| A missense SNP in the tumor suppressor SETD2 reduces H3K36me3 and mitotic spindle integrity in Drosophila. | Brockett JS et al. | — | 2024 | → |
| A multi-layered integrative analysis reveals a cholesterol metabolic program in outer radial glia with implications for human brain evolution. | Moriano J et al. | — | 2024 | → |
| An Aedes-Anopheles Vaccine Candidate Supplemented with BCG Epitopes Against the Aedes and Anopheles Genera to Overcome Hypersensitivity to Mosquito Bites. | Naveed M et al. | — | 2024 | → |
| Analysis of damaging non-synonymous SNPs in GPx1 gene associated with the progression of diverse cancers through a comprehensive in silico approach. | Iqbal MW et al. | — | 2024 | → |
| Analysis of Stress Response Genes in Microtuberization of Potato <i>Solanum tuberosum</i> L.: Contributions to Osmotic and Combined Abiotic Stress Tolerance. | Herrera-Isidron L et al. | — | 2024 | → |
| Analytical validation and clinical utilization of K-4CARE™: a comprehensive genomic profiling assay with personalized MRD detection. | Nguyen Hoang TP et al. | — | 2024 | → |
| An In Silico Analysis of Genetic Variants and Structural Modeling of the Human Frataxin Protein in Friedreich's Ataxia. | Da Conceição LMA et al. | — | 2024 | → |
| An Integrated Framework for Analysis and Prediction of Impact of Single Nucleotide Polymorphism Associated with Human Diseases. | Muhammad SS et al. | — | 2024 | → |
| A Novel Affordable and Reliable Framework for Accurate Detection and Comprehensive Analysis of Somatic Mutations in Cancer. | Atzeni R et al. | — | 2024 | → |
| An overview of autosomal STRs and identity SNPs in a Norwegian population using massively parallel sequencing. | Agudo MM et al. | — | 2024 | → |
| A prevalent caveolin-1 gene rs926198 variant is associated with type 2 diabetes mellitus in the Thai population. | Yaikwawong M et al. | — | 2024 | → |
| Assessing the complementary information from an increased number of biologically relevant features in liquid biopsy-derived RNA-Seq data. | Giannoukakos S et al. | — | 2024 | → |
| Association of ABCB1 gene polymorphisms rs1128503, rs2032582, rs4148738 with anemia in patients receiving dabigatran after total knee arthroplasty. | Kasimova A et al. | — | 2024 | → |
| A statistical approach for identifying single nucleotide variants that affect transcription factor binding. | Baumgarten N et al. | — | 2024 | → |
| AStruct: detection of allele-specific RNA secondary structure in structuromic probing data. | Xu Q et al. | — | 2024 | → |
| A-to-I Editing Is Subtype-Specific in Non-Hodgkin Lymphomas. | Chen C et al. | — | 2024 | → |
| A-to-I RNA co-editing predicts clinical outcomes and is associated with immune cells infiltration in hepatocellular carcinoma. | Chen J et al. | — | 2024 | → |
| A user guide to RT-based mapping of RNA modifications. | Fang D et al. | — | 2024 | → |
| Biallelic null variants in PNPLA8 cause microcephaly by reducing the number of basal radial glia. | Nakamura Y et al. | — | 2024 | → |
| Bioinformatics characterization of variants of uncertain significance in pediatric sensorineural hearing loss. | Clay S et al. | — | 2024 | → |
| Biostatistical Aspects of Whole Genome Sequencing Studies: Preprocessing and Quality Control. | Betschart RO et al. | — | 2024 | → |
| Bone mineral density determinants in adolescents and young adults with congenital adrenal hyperplasia. | Navardauskaite R et al. | — | 2024 | → |
| Breast cancer immunopeptidomes contain numerous shared tumor antigens. | Kina E et al. | — | 2024 | → |
| Burden of Mendelian disorders in a large Middle Eastern biobank. | Aamer W et al. | — | 2024 | → |
| CanCellVar: A database for single-cell variants map in human cancer. | Yang C et al. | — | 2024 | → |
| Carriers of Heterozygous Loss-of-Function ACE Mutations Are at Risk for Alzheimer's Disease. | Danilov SM et al. | — | 2024 | → |
| Case Report: Identification of a CARD8 variant in all three patients with PFAPA syndrome complicated with Kawasaki disease. | Nakamura H et al. | — | 2024 | → |
| CD59 gene: 143 haplotypes of 22,718 nucleotides length by computational phasing in 113 individuals from different ethnicities. | Srivastava K et al. | — | 2024 | → |
| Characterization of the Common Genetic Variation in the Spanish Population of Navarre. | Maillo A et al. | — | 2024 | → |
| Characterization of the genomic landscape of HIV-associated lymphoma reveals heterogeneity across histological subtypes. | Hybel TE et al. | — | 2024 | → |
| Characterizing the pathogenicity of genetic variants: the consequences of context. | Ciesielski TH et al. | — | 2024 | → |
| Clinical and biochemical features of atherogenic hyperlipidemias with different genetic basis: A comprehensive comparative study. | Blokhina AV et al. | — | 2024 | → |
| Clinical exome sequencing data from patients with inborn errors of immunity: Cohort level diagnostic yield and the benefit of systematic reanalysis. | Vorsteveld EE et al. | — | 2024 | → |
| Clinical implications of incorporating genetic and non-genetic risk factors in CanRisk-based breast cancer risk prediction. | Tüchler A et al. | — | 2024 | → |
| Clinical relevance of protein-truncating variants of germline DNA repair genes in prostate cancer. | Shao YJ et al. | — | 2024 | → |
| CNVoyant a machine learning framework for accurate and explainable copy number variant classification. | Schuetz RJ et al. | — | 2024 | → |
| Common variation in a long non-coding RNA gene modulates variation of circulating TGF-β2 levels in metastatic colorectal cancer patients (Alliance). | Quintanilha JCF et al. | — | 2024 | → |
| Comparison among different preclinical models derived from the same patient with a non-functional pancreatic neuroendocrine tumor. | Wang Y et al. | — | 2024 | → |
| Comprehensive bioinformatics analysis of structural and functional consequences of deleterious missense mutations in the human QDPR gene. | Girish A et al. | — | 2024 | → |
| Comprehensive Catalog of Variants Potentially Associated with Hidradenitis Suppurativa, Including Newly Identified Variants from a Cohort of 100 Patients. | Muret K et al. | — | 2024 | → |
| Comprehensive characterization of high-risk coding and non-coding single nucleotide polymorphisms of human CXCR4 gene. | Sarkar B et al. | — | 2024 | → |
| Computational identification and analysis of deleterious non-synonymous single nucleotide polymorphisms (nsSNPs) in the human <i>POR</i> gene: a structural and functional impact. | Kumar R et al. | — | 2024 | → |
| Computational screening of pathogenic missense nsSNPs in heme oxygenase 1 (HMOX1) gene and their structural and functional consequences. | Yadav AK et al. | — | 2024 | → |
| Computer analysis shows differences between mitochondrial miRNAs and other miRNAs. | Vorozheykin PS et al. | — | 2024 | → |
| Core and accessory genomic traits of Vibrio cholerae O1 drive lineage transmission and disease severity. | Maciel-Guerra A et al. | — | 2024 | → |
| CRISPR-based genetic screens advance cancer immunology. | Cao Y et al. | — | 2024 | → |
| CRISPR/Cas9 targeting of passenger single nucleotide variants in haploinsufficient or essential genes expands cancer therapy prospects. | Kim H et al. | — | 2024 | → |
| Cross-Species Prediction of Transcription Factor Binding by Adversarial Training of a Novel Nucleotide-Level Deep Neural Network. | Zhang Q et al. | — | 2024 | → |
| CytoSIP: an annotated structural atlas for interactions involving cytokines or cytokine receptors. | Wang L et al. | — | 2024 | → |
| Deciphering principles of nucleosome interactions and impact of cancer-associated mutations from comprehensive interaction network analysis. | Xu W et al. | — | 2024 | → |
| Deciphering the impact of genomic variation on function. | IGVF Consortium | — | 2024 | → |
| Decoding Non-coding Variants: Recent Approaches to Studying Their Role in Gene Regulation and Human Diseases. | Peña-Martínez EG et al. | — | 2024 | → |
| Deconstructing Intratumoral Heterogeneity through Multiomic and Multiscale Analysis of Serial Sections. | Schupp PG et al. | — | 2024 | → |
| DeepMiRBP: a hybrid model for predicting microRNA-protein interactions based on transfer learning and cosine similarity. | Azizian S et al. | — | 2024 | → |
| Deep Profiling of Plasma Proteoforms with Engineered Nanoparticles for Top-Down Proteomics. | Huang CF et al. | — | 2024 | → |
| Deletion in a regulatory region is associated with underexpression of miR-148b‑3p in patients with prostate cancer. | Bergez-Hernández F et al. | — | 2024 | → |
| Dementia with Lewy Bodies: Genomics, Transcriptomics, and Its Future with Data Science. | Goddard TR et al. | — | 2024 | → |
| Detection of pre-mRNA involved in abnormal splicing using Graph Neural Network and Nearest Correlation Method. | Tahashi Y et al. | — | 2024 | → |
| Development and Characterisation of a New Patient-Derived Xenograft Model of AR-Negative Metastatic Castration-Resistant Prostate Cancer. | Turnham DJ et al. | — | 2024 | → |
| Development of a novel five-dye panel for human identification insertion/deletion (INDEL) polymorphisms. | Avellaneda LL et al. | — | 2024 | → |
| Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseases. | Weisschuh N et al. | — | 2024 | → |
| Differential molecular mechanisms of substrate recognition by selenium methyltransferases, INMT and TPMT, in selenium detoxification and excretion. | Fukumoto Y et al. | — | 2024 | → |
| Discovery and engineering of ChCas12b for precise genome editing. | Wei J et al. | — | 2024 | → |
| DiSMVC: a multi-view graph collaborative learning framework for measuring disease similarity. | Wei H et al. | — | 2024 | → |
| DNA barcoded peptide-MHC multimers to measure and monitor minor histocompatibility antigen-specific T cells after allogeneic stem cell transplantation. | Fuchs KJ et al. | — | 2024 | → |
| DNA-binding factor footprints and enhancer RNAs identify functional non-coding genetic variants. | Biddie SC et al. | — | 2024 | → |
| DRD3 Predicts Cognitive Impairment and Anxiety in Parkinson's Disease: Susceptibility and Protective Effects. | Gonçalves A et al. | — | 2024 | → |
| Early Immune Remodeling Steers Clinical Response to First-Line Chemoimmunotherapy in Advanced Gastric Cancer. | An M et al. | — | 2024 | → |
| Elevated incidence of somatic mutations at prevalent genetic sites. | Wang M et al. | — | 2024 | → |
| Elucidating the Impact of Deleterious Mutations on IGHG1 and Their Association with Huntington's Disease. | Shafie A et al. | — | 2024 | → |
| Elucidating the role of MLL1 nsSNPs: Structural and functional alterations and their contribution to leukemia development. | Al-Nakhle HH et al. | — | 2024 | → |
| Enhancing mitochondrial one-carbon metabolism is neuroprotective in Alzheimer's disease models. | Yu Y et al. | — | 2024 | → |
| Enhancing SNV identification in whole-genome sequencing data through the incorporation of known genetic variants into the minimap2 index. | Guguchkin E et al. | — | 2024 | → |
| Enrichment of a subset of Neanderthal polymorphisms in autistic probands and siblings. | Pauly R et al. | — | 2024 | → |
| Epigenetic variation impacts individual differences in the transcriptional response to influenza infection. | Aracena KA et al. | — | 2024 | → |
| Epi-SSA: A novel epistasis detection method based on a multi-objective sparrow search algorithm. | Sun L et al. | — | 2024 | → |
| EpiVar Browser: advanced exploration of epigenomics data under controlled access. | Lougheed DR et al. | — | 2024 | → |
| eRNAbase: a comprehensive database for decoding the regulatory eRNAs in human and mouse. | Song C et al. | — | 2024 | → |
| Estimating the proportion of beneficial mutations that are not adaptive in mammals. | Latrille T et al. | — | 2024 | → |
| Evaluation of Pregabalin bioadhesive multilayered microemulsion IOP-lowering eye drops. | Maria DN et al. | — | 2024 | → |
| Evaluation of the pathogenic potential of germline DDX41 variants in hematopoietic neoplasms using the ACMG/AMP guidelines. | Matsui H et al. | — | 2024 | → |
| Exceptional Response of <i>BRAF</i><sup>V600E</sup>-Mutated Acinar Cell CUP to BRAF/MEK Inhibition. | Kerle IA et al. | — | 2024 | → |
| Exome Sequencing Has a High Diagnostic Rate in Sporadic Congenital Hypopituitarism and Reveals Novel Candidate Genes. | Martinez-Mayer J et al. | — | 2024 | → |
| Exome Sequencing of a Blastomycosis Case-Control Cohort From Manitoba and Northwestern Ontario, Canada. | Jankowski P et al. | — | 2024 | → |
| ExonSurfer: a web-tool to design primers at exon-exon junctions. | Monfort-Lanzas P et al. | — | 2024 | → |
| Experimental and Computational Analysis of Newly Identified Pathogenic Mutations in the Creatine Transporter SLC6A8. | Ferrada E et al. | — | 2024 | → |
| Explainable artificial intelligence identifies an AQP4 polymorphism-based risk score associated with brain amyloid burden. | Beer S et al. | — | 2024 | → |
| Exploring Molecular Genetic Alterations and RAF Fusions in Melanoma: A Belvarafenib Expanded Access Program in Patients with RAS/RAF-Mutant Melanoma. | Kim KH et al. | — | 2024 | → |
| Functional Optimization in Distinct Tissues and Conditions Constrains the Rate of Protein Evolution. | Usmanova DR et al. | — | 2024 | → |
| Functional polymorphisms of <i>NOS3</i> and <i>GUCY1A3</i> affect both nitric oxide formation and association with hypertensive disorders of pregnancy. | Pereira DA et al. | — | 2024 | → |
| Functional roles and cancer variants of the bifunctional glycosylase NEIL2. | Hua AB et al. | — | 2024 | → |
| Gamma-delta T-cell large granular lymphocytic leukemia in the setting of rheumatologic diseases. | Gorodetskiy V et al. | — | 2024 | → |
| Genebe.net: Implementation and validation of an automatic ACMG variant pathogenicity criteria assignment. | Stawiński P et al. | — | 2024 | → |
| Generating Clinical-Grade Gene-Disease Validity Classifications Through the ClinGen Data Platforms. | Wright MW et al. | — | 2024 | → |
| Genetic/epigenetic effects in NF1 microdeletion syndrome: beyond the haploinsufficiency, looking at the contribution of not deleted genes. | Tritto V et al. | — | 2024 | → |
| Genetic Etiology in Pelvic Organ Prolapse: Role of Connective Tissue Homeostasis, Hormone Metabolism, and Oxidative Stress. | Jiang W et al. | — | 2024 | → |
| Genetic polymorphisms affecting telomere length and their association with cardiovascular disease in the Heinz-Nixdorf-Recall study. | Tannemann N et al. | — | 2024 | → |
| Genetic predisposition to early mycosis fungoides: investigating genetic polymorphisms in tissue-resident memory T-cell genes. | Almaani N et al. | — | 2024 | → |
| Genetic variants affecting mitochondrial function provide further insights for kidney disease. | Cañadas-Garre M et al. | — | 2024 | → |
| Genomic characteristics and evolution of Multicentric Esophageal and gastric Cardiac Cancer. | Liu X et al. | — | 2024 | → |
| Genomic data in the All of Us Research Program. | All of Us Research Program Genomics Investigators | — | 2024 | → |
| Genomic Engineering of Oral Keratinocytes to Establish In Vitro Oral Potentially Malignant Disease Models as a Platform for Treatment Investigation. | Wils LJ et al. | — | 2024 | → |
| Genomics 2 Proteins portal: a resource and discovery tool for linking genetic screening outputs to protein sequences and structures. | Kwon S et al. | — | 2024 | → |
| Genotype imputation methods for whole and complex genomic regions utilizing deep learning technology. | Naito T et al. | — | 2024 | → |
| Germline mutational variants of Turkish ovarian cancer patients suspected of Hereditary Breast and Ovarian Cancer (HBOC) by next-generation sequencing. | Tuncer SB et al. | — | 2024 | → |
| GNA14 and GNAQ somatic mutations cause spinal and intracranial extra-axial cavernous hemangiomas. | Ren J et al. | — | 2024 | → |
| G protein-coupled receptor (GPCR) pharmacogenomics. | Thompson MD et al. | — | 2024 | → |
| G-quadruplex-mediated genomic instability drives SNVs in cancer. | Richl T et al. | — | 2024 | → |
| Harnessing the power of AI in precision medicine: NGS-based therapeutic insights for colorectal cancer cohort. | Murcia Pienkowski V et al. | — | 2024 | → |
| Heterozygosity in factor XIII genes and the manifestation of mild inherited factor XIII deficiency. | Singh S et al. | — | 2024 | → |
| Heterozygous mutations in the C-terminal domain of COPA underlie a complex autoinflammatory syndrome. | Delafontaine S et al. | — | 2024 | → |
| High-sensitivity in situ capture of endogenous RNA-protein interactions in fixed cells and primary tissues. | Liang Q et al. | — | 2024 | → |
| Human genetics of face recognition: discovery of MCTP2 mutations in humans with face blindness (congenital prosopagnosia). | Sun Y et al. | — | 2024 | → |
| Human lncRNAs harbor conserved modules embedded in different sequence contexts. | Ballesio F et al. | — | 2024 | → |
| IARS2 mutations lead to Leigh syndrome with a combined oxidative phosphorylation deficiency. | Dong Q et al. | — | 2024 | → |
| Identification and analysis of oncogenic non-synonymous single nucleotide polymorphisms in the human NRAS gene: An exclusive in silico study. | Mozibullah M et al. | — | 2024 | → |
| Identification and expression analysis of SBP-Box-like (<i>SPL</i>) gene family disclose their contribution to abiotic stress and flower budding in pigeon pea (<i>Cajanus cajan</i>). | Shaheen T et al. | — | 2024 | → |
| Identification and functional characterization of a novel heterozygous splice‑site mutation in the calpain 3 gene causes rare autosomal dominant limb‑girdle muscular dystrophy. | Mao B et al. | — | 2024 | → |
| Identification of a Novel Homozygous Mutation in <i>MTMR2</i> Gene Causes Very Rare Charcot-Marie-Tooth Disease Type 4B1. | Du N et al. | — | 2024 | → |
| Identifying cancer cells from calling single-nucleotide variants in scRNA-seq data. | Marot-Lassauzaie V et al. | — | 2024 | → |
| Identifying Oncogenic Missense Single Nucleotide Polymorphisms in Human SAT1 Gene Using Computational Algorithms and Molecular Dynamics Tools. | Mozibullah M et al. | — | 2024 | → |
| IDeRare: a lightweight and extensible open-source phenotype and exome analysis pipeline for germline rare disease diagnosis. | Harsono IW et al. | — | 2024 | → |
| Immuno-oncologic profiling of pediatric brain tumors reveals major clinical significance of the tumor immune microenvironment. | Levine AB et al. | — | 2024 | → |
| Implications of noncoding regulatory functions in the development of insulinomas. | Ramos-Rodríguez M et al. | — | 2024 | → |
| INF2 and ROBO2 gene mutation in an Indian family with end stage renal failure and follow-up of renal transplantation. | Shah V et al. | — | 2024 | → |
| Inferring ancestry with the hierarchical soft clustering approach tangleGen. | Burger KE et al. | — | 2024 | → |
| In Silico Deciphering of the Potential Impact of Variants of Uncertain Significance in Hereditary Colorectal Cancer Syndromes. | Fasano C et al. | — | 2024 | → |
| In Silico Functional and Structural Analysis of Non-synonymous Single Nucleotide Polymorphisms (nsSNPs) in Human Paired Box 4 Gene. | Kamal MM et al. | — | 2024 | → |
| In silico functional, structural and pathogenicity analysis of missense single nucleotide polymorphisms in human MCM6 gene. | Kamal MM et al. | — | 2024 | → |
| Integrated electrophysiological and genomic profiles of single cells reveal spiking tumor cells in human glioma. | Curry RN et al. | — | 2024 | → |
| Integrating deep learning architectures for enhanced biomedical relation extraction: a pipeline approach. | Sarol MJ et al. | — | 2024 | → |
| Integrative genomic analyses combined with molecular dynamics simulations reveal the impact of deleterious mutations of Bcl-2 gene on the apoptotic machinery and implications in carcinogenesis. | Elamin G et al. | — | 2024 | → |
| Integrative genomics identifies SHPRH as a tumor suppressor gene in lung adenocarcinoma that regulates DNA damage response. | Nagelberg AL et al. | — | 2024 | → |
| Integrative identification of non-coding regulatory regions driving metastatic prostate cancer. | Woo BJ et al. | — | 2024 | → |
| Intelligent mutation based evolutionary optimization algorithm for genomics and precision medicine. | Singh SP et al. | — | 2024 | → |
| Interaction between RNF4 and SART3 is associated with the risk of schizophrenia. | Cheng Y et al. | — | 2024 | → |
| Investigating food production-associated DNA methylation changes in paleogenomes: Lack of consistent signals beyond technical noise. | Çokoğlu SS et al. | — | 2024 | → |
| <i>TBX5</i> genetic variants and SCD-CAD susceptibility: insights from Chinese Han cohorts. | Rui Y et al. | — | 2024 | → |
| jMorp: Japanese Multi-Omics Reference Panel update report 2023. | Tadaka S et al. | — | 2024 | → |
| Knockout mice with pituitary malformations help identify human cases of hypopituitarism. | Martinez-Mayer J et al. | — | 2024 | → |
| KnockTF 2.0: a comprehensive gene expression profile database with knockdown/knockout of transcription (co-)factors in multiple species. | Feng C et al. | — | 2024 | → |
| Life history and ancestry of the late Upper Palaeolithic infant from Grotta delle Mura, Italy. | Higgins OA et al. | — | 2024 | → |
| Life-Threatening Diffuse Alveolar Hemorrhage and Graft Failure in Atypical Hemolytic Uremic Syndrome with C3 Gene Mutation following Kidney Transplant. | Song JY et al. | — | 2024 | → |
| Limitations in next-generation sequencing-based genotyping of breast cancer polygenic risk score loci. | Baumann A et al. | — | 2024 | → |
| Liquid Biopsy Profiling with Multiple Tests in Patients with Metastatic Breast Cancer. | Higa N et al. | — | 2024 | → |
| Loci on chromosome 20 interact with rs16969968 to influence cigarettes per day in European ancestry individuals. | Romero Villela PN et al. | — | 2024 | → |
| Longitudinal molecular profiling elucidates immunometabolism dynamics in breast cancer. | Wang K et al. | — | 2024 | → |
| Long-Read MDM4 Sequencing Reveals Aberrant Isoform Landscape in Metastatic Melanomas. | Patrick N et al. | — | 2024 | → |
| Long-read Ribo-STAMP simultaneously measures transcription and translation with isoform resolution. | Jagannatha P et al. | — | 2024 | → |
| <i>In silico</i> structural and mechanical insights into bedaquiline resistance associated with high-grade non-synonymous mutations in <i>atpE</i>, <i>mmpR5</i>, and <i>pepQ</i>. | Chakraborty G et al. | — | 2024 | → |
| m7GHub V2.0: an updated database for decoding the N7-methylguanosine (m7G) epitranscriptome. | Wang X et al. | — | 2024 | → |
| Machine learning model identifies genetic predictors of cisplatin-induced ototoxicity in CERS6 and TLR4. | Arab A et al. | — | 2024 | → |
| Mapping the genetic landscape of treatable inherited metabolic disorders in a large Middle Eastern biobank. | Devadoss Gandhi G et al. | — | 2024 | → |
| Massively parallel characterization of regulatory elements in the developing human cortex. | Deng C et al. | — | 2024 | → |
| Mast cell degranulation and bradykinin-induced angioedema - searching for the missing link. | Porebski G et al. | — | 2024 | → |
| Maternal arsenic exposure modifies associations between arsenic, folate and arsenic metabolism gene variants, and spina bifida risk: A case‒control study in Bangladesh. | Wei CF et al. | — | 2024 | → |
| MDDOmics: multi-omics resource of major depressive disorder. | Zhao Y et al. | — | 2024 | → |
| Mendelian randomization analysis using GWAS and eQTL data to investigate the relationship between chronotype and neuropsychiatric disorders and their molecular basis. | Crinion S et al. | — | 2024 | → |
| MHGTMDA: Molecular heterogeneous graph transformer based on biological entity graph for miRNA-disease associations prediction. | Zou H et al. | — | 2024 | → |
| MicroRNA‑24 alleviates colorectal cancer progression via a rs28382740 single nucleotide polymorphism in the long noncoding region of X‑linked inhibitor of apoptosis protein. | Tian YF et al. | — | 2024 | → |
| Mistranslating the genetic code with leucine in yeast and mammalian cells. | Davey-Young J et al. | — | 2024 | → |
| Molecular and clinical analyses of PHF6 mutant myeloid neoplasia provide their pathogenesis and therapeutic targeting. | Kubota Y et al. | — | 2024 | → |
| Molecular Insights into the Role of Sterols in Microtuber Development of Potato <i>Solanum tuberosum</i> L. | Herrera-Isidron L et al. | — | 2024 | → |
| Molecular underpinnings of dedifferentiation and aggressiveness in chromophobe renal cell carcinoma. | Kapur P et al. | — | 2024 | → |
| MONET: a database for prediction of neoantigens derived from microsatellite loci. | Deng N et al. | — | 2024 | → |
| Multimodal epigenetic sequencing analysis (MESA) of cell-free DNA for non-invasive colorectal cancer detection. | Li Y et al. | — | 2024 | → |
| Multi-omic human pancreatic islet endoplasmic reticulum and cytokine stress response mapping provides type 2 diabetes genetic insights. | Sokolowski EK et al. | — | 2024 | → |
| Multi-Omics Analysis Revealed the rSNPs Potentially Involved in T2DM Pathogenic Mechanism and Metformin Response. | Damarov IS et al. | — | 2024 | → |
| Multi-omics analysis reveals critical metabolic regulators in bladder cancer. | Wei C et al. | — | 2024 | → |
| Mutational Analysis of Circulating Tumor DNA in Patients With Estrogen Receptor-Positive/Human Epidermal Growth Factor Receptor 2-Negative Advanced Breast Cancer Receiving Palbociclib: Results From the TREnd Trial. | Migliaccio I et al. | — | 2024 | → |
| Mutational signature and prognosis in adenocarcinoma of the bladder. | Yang G et al. | — | 2024 | → |
| Mutations in the tail and rod domains of the neurofilament heavy-chain gene increase the risk of ALS. | Marriott H et al. | — | 2024 | → |
| NCAD v1.0: a database for non-coding variant annotation and interpretation. | Feng X et al. | — | 2024 | → |
| Neotelomeres and telomere-spanning chromosomal arm fusions in cancer genomes revealed by long-read sequencing. | Tan KT et al. | — | 2024 | → |
| Network-Based Methods and Their Applications in Drug Discovery. | Yu Z et al. | — | 2024 | → |
| Network medicine-based epistasis detection in complex diseases: ready for quantum computing. | Hoffmann M et al. | — | 2024 | → |
| Neuronal MAPT expression is mediated by long-range interactions with cis-regulatory elements. | Rogers BB et al. | — | 2024 | → |
| NIAGADS Alzheimer's GenomicsDB: A resource for exploring Alzheimer's disease genetic and genomic knowledge. | Greenfest-Allen E et al. | — | 2024 | → |
| Novel genetic association of the Furin gene polymorphism rs1981458 with COVID-19 severity among Indian populations. | Pandey RK et al. | — | 2024 | → |
| Novel genotype-phenotype correlations, differential cerebellar allele-specific methylation, and a common origin of the (ATTTC)<sub>n</sub> insertion in spinocerebellar ataxia type 37. | Sanchez-Flores M et al. | — | 2024 | → |
| Novel mutation in the NDP gene associated with Norrie disease in a Chinese pedigree. | Jiang K et al. | — | 2024 | → |
| Novel Splice-Altering Variants in the <i>CHM</i> and <i>CACNA1F</i> Genes Causative of X-Linked Choroideremia and Cone Dystrophy. | Ridgeway AR et al. | — | 2024 | → |
| Npy transcription is regulated by noncanonical STAT3 signaling in hypothalamic neurons: Implication with lipotoxicity and obesity. | He W et al. | — | 2024 | → |
| Nuclear export is a limiting factor in eukaryotic mRNA metabolism. | Müller JM et al. | — | 2024 | → |
| Optimised, Broad NGS Panel for Inherited Eye Diseases to Diagnose 1000 Patients in Poland. | Matczyńska E et al. | — | 2024 | → |
| Optimized biomedical entity relation extraction method with data augmentation and classification using GPT-4 and Gemini. | Phan CP et al. | — | 2024 | → |
| Oxytocin Receptor Single-Nucleotide Polymorphisms Are Related to Maternal-Infant Co-Occupation and Infant Sensory Processing. | Aubuchon-Endsley NL et al. | — | 2024 | → |
| P2RX7 gene variants associate with altered inflammasome assembly and reduced pyroptosis in chronic nonbacterial osteomyelitis (CNO). | Charras A et al. | — | 2024 | → |
| Pan-Cancer Single-Nucleus Total RNA Sequencing Using snHH-Seq. | Chen H et al. | — | 2024 | → |
| Personalized Approaches to Cardiovascular Disease: Insights into FDA-Approved Interventions and Clinical Pharmacogenetics. | Raoufinia R et al. | — | 2024 | → |
| Pharmacogenetic insights into ABCB1, ABCC2, CYP1A2, and CYP2B6 variants with epilepsy susceptibility among Egyptian Children: A retrospective case-control study. | Attia ZR et al. | — | 2024 | → |
| Pharmacogenomics: A Genetic Approach to Drug Development and Therapy. | Qahwaji R et al. | — | 2024 | → |
| Phenotypic Description of A Patient with ODLURO Syndrome and Functional Characterization of the Pathogenetic Role of A Synonymous Variant c.186G>A in <i>KMT2E</i> Gene. | Benvenuto M et al. | — | 2024 | → |
| Polymorphisms in LRP2 and CUBN genes and their association with serum vitamin D levels and sleep apnea. | Anatolou D et al. | — | 2024 | → |
| Post-translational modification prediction via prompt-based fine-tuning of a GPT-2 model. | Shrestha P et al. | — | 2024 | → |
| Precision Medicine in Childhood Cancer: The Influence of Genetic Polymorphisms on Vincristine-Induced Peripheral Neuropathy. | Marangoni-Iglecias L et al. | — | 2024 | → |
| Prediction of adverse drug reactions due to genetic predisposition using deep neural networks. | Dafniet B et al. | — | 2024 | → |
| Prioritising genetic findings for drug target identification and validation. | Hukerikar N et al. | — | 2024 | → |
| Privacy-Preserving Fingerprinting Against Collusion and Correlation Threats in Genomic Data. | Ji T et al. | — | 2024 | → |
| Probiotic neoantigen delivery vectors for precision cancer immunotherapy. | Redenti A et al. | — | 2024 | → |
| Proteogenomic insights into the biology and treatment of pan-melanoma. | Xiang H et al. | — | 2024 | → |
| PubMed and beyond: biomedical literature search in the age of artificial intelligence. | Jin Q et al. | — | 2024 | → |
| pXg: Comprehensive Identification of Noncanonical MHC-I-Associated Peptides From De Novo Peptide Sequencing Using RNA-Seq Reads. | Choi S et al. | — | 2024 | → |
| Rational design of a multivalent vaccine targeting arthropod-borne viruses using reverse vaccinology strategies. | Dhanushkumar T et al. | — | 2024 | → |
| RAVAR: a curated repository for rare variant-trait associations. | Cao C et al. | — | 2024 | → |
| Regional-specific calibration enables application of computational evidence for clinical classification of 5' cis-regulatory variants in Mendelian disease. | Villani RM et al. | — | 2024 | → |
| Review of Computational Methods and Database Sources for Predicting the Effects of Coding Frameshift Small Insertion and Deletion Variations. | Ge F et al. | — | 2024 | → |
| RNA editing regulates glutamatergic synapses in the frontal cortex of a molecular subtype of Amyotrophic Lateral Sclerosis. | Karagianni K et al. | — | 2024 | → |
| RNA variant assessment using transactivation and transdifferentiation. | Nicolas-Martinez EC et al. | — | 2024 | → |
| scQTLbase: an integrated human single-cell eQTL database. | Ding R et al. | — | 2024 | → |
| Sentinel cells programmed to respond to environmental DNA including human sequences. | Nou XA et al. | — | 2024 | → |
| Sex differences in MAGEL2 gene promoter methylation in high functioning autism - trends from a pilot study using nanopore Cas9 targeted long read sequencing. | Wieting J et al. | — | 2024 | → |
| Shared genetic architectures of educational attainment in East Asian and European populations. | Chen TT et al. | — | 2024 | → |
| Single-cell multi-omics identify novel regulators required for osteoclastogenesis during aging. | Li H et al. | — | 2024 | → |
| Single nucleotide polymorphisms in the cannabinoid CB<sub>2</sub> receptor: Molecular pharmacology and disease associations. | Foyzun T et al. | — | 2024 | → |
| Single nucleotide variations encoding missense mutations in G protein-coupled receptors may contribute to autism. | van der Westhuizen ET | — | 2024 | → |
| SingleQ: a comprehensive database of single-cell expression quantitative trait loci (sc-eQTLs) cross human tissues. | Zhou Z et al. | — | 2024 | → |
| Singleton mutations in large-scale cancer genome studies: uncovering the tail of cancer genome. | Desai S et al. | — | 2024 | → |
| SNVstory: inferring genetic ancestry from genome sequencing data. | Bollas AE et al. | — | 2024 | → |
| Spectrum and Prevalence of Rare <i>APOE</i> Variants and Their Association with Familial Dysbetalipoproteinemia. | Blokhina AV et al. | — | 2024 | → |
| Structural analysis of human ATE1 isoforms and their interactions with Arg-tRNA<sub>Arg</sub>. | Naga R et al. | — | 2024 | → |
| Syndromic ciliopathy: a taiwanese single-center study. | Pan YW et al. | — | 2024 | → |
| Systematic identification of genotype-dependent enhancer variants in eosinophilic esophagitis. | Shook MS et al. | — | 2024 | → |
| Systematic Review and Phenome-Wide Scans of Genetic Associations with Vascular Cognitive Impairment. | Diany R et al. | — | 2024 | → |
| Tenofovir Activation Is Diminished in the Brain and Liver of Creatine Kinase Brain-Type Knockout Mice. | Eberhard CD et al. | — | 2024 | → |
| The 1000 Chinese Indigenous Pig Genomes Project provides insights into the genomic architecture of pigs. | Du H et al. | — | 2024 | → |
| The association between osteoprotegerin and arterial stiffness in a 10-year longitudinal study of patients with type 2 diabetes. | Low S et al. | — | 2024 | → |
| The association between single-nucleotide polymorphisms within type 1 interferon pathway genes and human immunodeficiency virus type 1 viral load in antiretroviral-naïve participants. | Mørup SB et al. | — | 2024 | → |
| The association of rs17713054 with Neanderthal origin at 3p21.31 locus with the severity of COVID-19 in Iranian patients. | Yaghmouri M et al. | — | 2024 | → |
| The Biallelic Inheritance of Two Novel <i>SCN1A</i> Variants Results in Developmental and Epileptic Encephalopathy Responsive to Levetiracetam. | Dinoi G et al. | — | 2024 | → |
| The biomedical relationship corpus of the BioRED track at the BioCreative VIII challenge and workshop. | Islamaj R et al. | — | 2024 | → |
| The colibactin-producing <i>Escherichia coli</i> alters the tumor microenvironment to immunosuppressive lipid overload facilitating colorectal cancer progression and chemoresistance. | de Oliveira Alves N et al. | — | 2024 | → |
| The complex etiology of autism spectrum disorder due to missense mutations of CHD8. | Shiraishi T et al. | — | 2024 | → |
| The contribution of silencer variants to human diseases. | Huang D et al. | — | 2024 | → |
| The Diagnostic Value of Whole-Exome Sequencing in a Spectrum of Rare Neurological Disorders Associated with Cerebellar Atrophy. | Ashaat EA et al. | — | 2024 | → |
| The genetic basis of autoimmunity seen through the lens of T cell functional traits. | Lagattuta KA et al. | — | 2024 | → |
| The genetic landscape of autism spectrum disorder in an ancestrally diverse cohort. | Gogate A et al. | — | 2024 | → |
| The genetic landscape of histologically transformed marginal zone lymphomas. | Li A et al. | — | 2024 | → |
| The interplay of mutagenesis and ecDNA shapes urothelial cancer evolution. | Nguyen DD et al. | — | 2024 | → |
| The largest genome-wide association study for breast cancer in Taiwanese Han population. | Hsu YC et al. | — | 2024 | → |
| The Role of Ryanodine Receptor 2 Polymorphisms in Oral Squamous Cell Carcinoma Susceptibility and Clinicopathological Features. | Hsu CH et al. | — | 2024 | → |
| The UCSC Genome Browser database: 2024 update. | Raney BJ et al. | — | 2024 | → |
| The Use of Precision Epigenetic Methods for the Diagnosis and Care of Stable Coronary Heart Disease Reduces Healthcare Costs. | Frisvold D et al. | — | 2024 | → |
| TMBcalc: a computational pipeline for identifying pan-cancer Tumor Mutational Burden gene signatures. | Privitera GF et al. | — | 2024 | → |
| Transcriptome analysis of primary adult B-cell lineage acute lymphoblastic leukemia identifies pathogenic variants and gene fusions, and predicts subtypes for in depth molecular diagnosis. | Podgorica M et al. | — | 2024 | → |
| Transforming Clinical Research: The Power of High-Throughput Omics Integration. | Vitorino R | — | 2024 | → |
| Tumor Expression of CD83 Reduces Glioma Progression and Is Associated with Reduced Immunosuppression. | McDonald MF et al. | — | 2024 | → |
| Tumor mutational burden assessment and standardized bioinformatics approach using custom NGS panels in clinical routine. | Dupain C et al. | — | 2024 | → |
| Tumor Neoepitope-Based Vaccines: A Scoping Review on Current Predictive Computational Strategies. | Rocha LGDN et al. | — | 2024 | → |
| Uncovering the BIN1-SH3 interactome underpinning centronuclear myopathy. | Zambo B et al. | — | 2024 | → |
| Understanding and Predicting Ligand Efficacy in the μ-Opioid Receptor through Quantitative Dynamical Analysis of Complex Structures. | Galdino GT et al. | — | 2024 | → |
| Understanding the determinants of sweet taste liking in the African and East Asian ancestry groups in the U.S.-A study protocol. | Cheung MM et al. | — | 2024 | → |
| Understanding the variant landscape, and genetic epidemiology of Multiple Endocrine Neoplasia in India. | Vatsyayan A et al. | — | 2024 | → |
| Unlocking the Door for Precision Medicine in Rare Conditions: Structural and Functional Consequences of Missense <i>ACVR1</i> Variants. | Nagar G et al. | — | 2024 | → |
| Unraveling the function and structure impact of deleterious missense SNPs in the human OX1R receptor by computational analysis. | Farajzadeh-Dehkordi M et al. | — | 2024 | → |
| Unravelling novel and pleiotropic genes for cannon bone circumference and bone mineral density in Yorkshire pigs. | Qiu Z et al. | — | 2024 | → |
| VarCards2: an integrated genetic and clinical database for ACMG-AMP variant-interpretation guidelines in the human whole genome. | Wang Z et al. | — | 2024 | → |
| Variant Impact Predictor database (VIPdb), version 2: trends from three decades of genetic variant impact predictors. | Lin YJ et al. | — | 2024 | → |
| VCAT: an integrated variant function annotation tools. | Huang B et al. | — | 2024 | → |
| Viral hepatitis moderates the impact of TGFB1 on neurocognitive impairment. | Tsao WC et al. | — | 2024 | → |
| Whole exome sequencing identifies a novel mutation in <i>Annexin A4</i> that is associated with recurrent spontaneous abortion. | Ye Q et al. | — | 2024 | → |
| Whole-exome sequencing identifies cancer-associated variants of the endo-lysosomal ion transport channels in the Saudi population. | Binobaid L et al. | — | 2024 | → |
| Whole-Exome Sequencing Improves Understanding of Inherited Retinal Dystrophies in Korean Patients. | Park Y et al. | — | 2024 | → |
| Whole‑exome sequencing reveals Lewis lung carcinoma is a hypermutated Kras/Nras-mutant cancer with extensive regional mutation clusters in its genome. | He Q et al. | — | 2024 | → |
| Whole genome case-control study of central nervous system toxicity due to antimicrobial drugs. | Ås J et al. | — | 2024 | → |
| Whole-Genome Resequencing Reveals Genetic Diversity and Growth Trait-Related Genes in Pinan Cattle. | Bo D et al. | — | 2024 | → |
| Whole-genome sequencing reveals rare variants associated with gout in Taiwanese males. | Tseng YP et al. | — | 2024 | → |
| Widespread Impact of Natural Genetic Variations in CRISPR-Cas9 Outcomes. | Li VR et al. | — | 2024 | → |
| YY1 is involved in homologous recombination inhibition at guanine quadruplex sites in human cells. | Cui X et al. | — | 2024 | → |
| 2022 updates to the Rat Genome Database: a Findable, Accessible, Interoperable, and Reusable (FAIR) resource. | Vedi M et al. | — | 2023 | → |
| 3DVizSNP: a tool for rapidly visualizing missense mutations identified in high throughput experiments in iCn3D. | Sierk M et al. | — | 2023 | → |
| Aberrant phase separation and nucleolar dysfunction in rare genetic diseases. | Mensah MA et al. | — | 2023 | → |
| A case report of a patient with primary familial brain calcification with a <i>PDGFRB</i> genetic variant. | Al Ali J et al. | — | 2023 | → |
| A comprehensive analysis of genetic risk for metabolic syndrome in the Egyptian population via allele frequency investigation and Missense3D predictions. | Bassyouni M et al. | — | 2023 | → |
| A Comprehensive Genetic Analysis of Slovenian Families with Multiple Cases of Orofacial Clefts Reveals Novel Variants in the Genes <i>IRF6</i>, <i>GRHL3</i>, and <i>TBX22</i>. | Slavec L et al. | — | 2023 | → |
| A genome-wide and candidate gene association study of preterm birth in Korean pregnant women. | Hur YM et al. | — | 2023 | → |
| A Genomic Study of the Japanese Population Focusing on the Glucocorticoid Receptor Interactome Highlights Distinct Genetic Characteristics Associated with Stress Response. | Mitsis T et al. | — | 2023 | → |
| A heterozygous missense variant in DLX3 leads to uterine leiomyomas and pregnancy losses in a consanguineous Iranian family. | Saboori-Darabi S et al. | — | 2023 | → |
| A highly specific CRISPR-Cas12j nuclease enables allele-specific genome editing. | Wang Y et al. | — | 2023 | → |
| Allele-specific quantification of human leukocyte antigen transcript isoforms by nanopore sequencing. | Hughes AEO et al. | — | 2023 | → |
| Allelic bias when performing in-solution enrichment of ancient human DNA. | Davidson R et al. | — | 2023 | → |
| An absolute approach to using whole exome DNA and RNA workflow for cancer biomarker testing. | Malhotra R et al. | — | 2023 | → |
| Analysis of clinical and genomic profiles of therapy-related myeloid neoplasm in Korea. | Yun J et al. | — | 2023 | → |
| Analysis of convergence of linkage and association studies in autism spectrum disorders. | Mpoulimari I et al. | — | 2023 | → |
| Analysis of Retinol Binding Protein 4 and <i>ABCA4</i> Gene Variation in Non-Neovascular Age-Related Macular Degeneration. | Chou HD et al. | — | 2023 | → |
| Analysis of the Mutational Landscape of Osteosarcomas Identifies Genes Related to Metastasis and Prognosis and Disrupted Biological Pathways of Immune Response and Bone Development. | Pires SF et al. | — | 2023 | → |
| An atlas of transcribed human cardiac promoters and enhancers reveals an important role of regulatory elements in heart failure. | Deviatiiarov RM et al. | — | 2023 | → |
| An Exploratory Study Using Next-Generation Sequencing to Identify Prothrombotic Variants in Patients with Cerebral Vein Thrombosis. | Kramer RA et al. | — | 2023 | → |
| An Integrated Computational Analysis of High-Risk SNPs in Angiopoietin-like Proteins (ANGPTL3 and ANGPTL8) Reveals Perturbed Protein Dynamics Associated with Cancer. | Iqbal S et al. | — | 2023 | → |
| An <i>SCN1A</i> gene missense variant in a Chinese Tujia ethnic family with genetic epilepsy with febrile seizures plus. | Li L et al. | — | 2023 | → |
| A novel approach for pharmacological substantiation of safety signals using plasma concentrations of medication and administrative/healthcare databases: A case study using Danish registries for an FDA warning on lamotrigine. | Wang W et al. | — | 2023 | → |
| A novel C19orf12 frameshift mutation in a MPAN pedigree impairs mitochondrial function and connectivity leading to neurodegeneration. | Chen HY et al. | — | 2023 | → |
| A novel pathogenic frameshift variant in AXIN2 in a man with polyposis and hypodontia. | Broekema MF et al. | — | 2023 | → |
| A novel PLS1 c.981+1G>A variant causes autosomal-dominant hereditary hearing loss in a family. | Xu L et al. | — | 2023 | → |
| Applicability of Diagnostic Criteria and High Prevalence of Familial Dysbetalipoproteinemia in Russia: A Pilot Study. | Blokhina AV et al. | — | 2023 | → |
| Assessing base-resolution DNA mechanics on the genome scale. | Jiang WJ et al. | — | 2023 | → |
| Assessment of clinically actionable pharmacogenetic markers to stratify anti-seizure medications. | Guin D et al. | — | 2023 | → |
| Association Between Vitamin D Receptor Polymorphism and the Response to Helicobacter Pylori Treatment. | Abo-Amer YE et al. | — | 2023 | → |
| Association of genetic variants of CircCHST15 with oral squamous cell carcinoma in the Chinese Han population. | Wang T et al. | — | 2023 | → |
| Association of <i>IL10RA</i>, <i>IL10RB</i>, and <i>IL22RA</i> Polymorphisms/Haplotypes with Susceptibility to and Clinical Manifestations of SLE. | Grk M et al. | — | 2023 | → |
| A whole-genome reference panel of 14,393 individuals for East Asian populations accelerates discovery of rare functional variants. | Choi J et al. | — | 2023 | → |
| Basic Research Protocol: Exome Sequencing in Adults With Loin Pain Hematuria Syndrome: A Pilot Study. | Sharma A et al. | — | 2023 | → |
| BELB: a biomedical entity linking benchmark. | Garda S et al. | — | 2023 | → |
| Bitter- and Umami-Related Genes are Differentially Associated with Food Group Intakes: the Framingham Heart Study. | Gervis JE et al. | — | 2023 | → |
| Brazilian XP-E siblings carrying a novel DDB2 variant developed early-onset melanoma: a case report. | de Souza Timoteo AR et al. | — | 2023 | → |
| CAFuncAPA: a knowledgebase for systematic functional annotations of APA events in human cancers. | Huang K et al. | — | 2023 | → |
| Chargaff's second parity rule lies at the origin of additive genetic interactions in quantitative traits to make omnigenic selection possible. | Matkarimov BT et al. | — | 2023 | → |
| Comorbidity genetic risk and pathways impact SARS-CoV-2 infection outcomes. | Jaros RK et al. | — | 2023 | → |
| Completing a genomic characterisation of microscopic tumour samples with copy number. | Nulsen J et al. | — | 2023 | → |
| Comprehensive analysis of non-synonymous missense SNPs of human galactose mutarotase (GALM) gene: an integrated computational approach. | Murthy TPK et al. | — | 2023 | → |
| Comprehensive Evaluation of The Infinium Human MethylationEPIC v2 BeadChip. | Kaur D et al. | — | 2023 | → |
| Computational analysis of the functional and structural impact of the most deleterious missense mutations in the human Protein C. | Farajzadeh-Dehkordi M et al. | — | 2023 | → |
| Computational network analysis of host genetic risk variants of severe COVID-19. | Alsaedi SB et al. | — | 2023 | → |
| Continuous synthesis of E. coli genome sections and Mb-scale human DNA assembly. | Zürcher JF et al. | — | 2023 | → |
| Contribution of Genetic Test to Early Diagnosis of Methylenetetrahydrofolate Reductase (MTHFR) Deficiency: The Experience of a Reference Center in Southern Italy. | Barretta F et al. | — | 2023 | → |
| CRIC: A VQA Dataset for Compositional Reasoning on Vision and Commonsense. | Gao D et al. | — | 2023 | → |
| CriSNPr, a single interface for the curated and de novo design of gRNAs for CRISPR diagnostics using diverse Cas systems. | Ansari AH et al. | — | 2023 | → |
| Critical Assessment of Phenotyping Cocktails for Clinical Use in an African Context. | Leuschner M et al. | — | 2023 | → |
| CVD-associated SNPs with regulatory potential reveal novel non-coding disease genes. | Zhu C et al. | — | 2023 | → |
| Dataset of single nucleotide polymorphisms of immune-associated genes in patients with SARS-CoV-2 infection. | Katsaouni N et al. | — | 2023 | → |
| dbAQP-SNP: a database of missense single-nucleotide polymorphisms in human aquaporins. | Dande R et al. | — | 2023 | → |
| Deciphering structural aspects of reverse cholesterol transport: mapping the knowns and unknowns. | Sacher S et al. | — | 2023 | → |
| Decoding the fibromelanosis locus complex chromosomal rearrangement of black-bone chicken: genetic differentiation, selective sweeps and protein-coding changes in Kadaknath chicken. | Shinde SS et al. | — | 2023 | → |
| Detection of germline variants with pathogenic potential in 48 patients with familial colorectal cancer by using whole exome sequencing. | Singh AK et al. | — | 2023 | → |
| DIANA-microT 2023: including predicted targets of virally encoded miRNAs. | Tastsoglou S et al. | — | 2023 | → |
| Discovery of Potent Agonists for the Predominant Variant of the Orphan MAS-Related G Protein-Coupled Receptor X4 (MRGPRX4). | Marx D et al. | — | 2023 | → |
| Distinct aneuploid evolution of astrocytoma and glioblastoma during recurrence. | Zhang J et al. | — | 2023 | → |
| Distribution of pharmacogene allele and phenotype frequencies in Brazilian psychiatric patients. | May GB et al. | — | 2023 | → |
| DNA methylation entropy is associated with DNA sequence features and developmental epigenetic divergence. | Fang Y et al. | — | 2023 | → |
| Dynamic characterization and interpretation for protein-RNA interactions across diverse cellular conditions using HDRNet. | Zhu H et al. | — | 2023 | → |
| Early Triple-Negative Breast Cancers in a Singapore Cohort Exhibit High PIK3CA Mutation Rates Associated With Low PD-L1 Expression. | Yeong J et al. | — | 2023 | → |
| Elucidating the Genetic Landscape of Oral Leukoplakia to Predict Malignant Transformation. | Wils LJ et al. | — | 2023 | → |
| EpiTyping: analysis of epigenetic aberrations in parental imprinting and X-chromosome inactivation using RNA-seq. | Sarel-Gallily R et al. | — | 2023 | → |
| Establishment and Molecular Characterization of Two Patient-Derived Pancreatic Ductal Adenocarcinoma Cell Lines as Preclinical Models for Treatment Response. | Braun R et al. | — | 2023 | → |
| Evaluation and limitations of different approaches among COVID-19 fatal cases using whole-exome sequencing data. | Forgacova N et al. | — | 2023 | → |
| Evaluation of SNPs from human IGFBP6 associated with gene expression: an <i>in-silico</i> study. | Wanarase SR et al. | — | 2023 | → |
| Evaluation of the Genetic Background of Patients with Niemann-Pick Disease. | Alipouran F et al. | — | 2023 | → |
| Evolutionary states and trajectories characterized by distinct pathways stratify patients with ovarian high grade serous carcinoma. | Lahtinen A et al. | — | 2023 | → |
| Evolution of structural rearrangements in prostate cancer intracranial metastases. | Khani F et al. | — | 2023 | → |
| Evolution of synchronous female bilateral breast cancers and response to treatment. | Hamy AS et al. | — | 2023 | → |
| Exome sequencing findings in children with annular pancreas. | Pitsava G et al. | — | 2023 | → |
| Exploring the Genetic Predisposition to Epigenetic Changes in Alzheimer's Disease. | Bryzgalov LO et al. | — | 2023 | → |
| Fast, accurate, and racially unbiased pan-cancer tumor-only variant calling with tabular machine learning. | McLaughlin RT et al. | — | 2023 | → |
| FDXR-associated disease in a Chinese cohort: Unraveling expanded ocular phenotypes and genetic spectrum. | Wei X et al. | — | 2023 | → |
| Feature selection with a genetic algorithm can help improve the distinguishing power of microbiota information in monozygotic twins' identification. | Fu G et al. | — | 2023 | → |
| FexSplice: A LightGBM-Based Model for Predicting the Splicing Effect of a Single Nucleotide Variant Affecting the First Nucleotide G of an Exon. | Joudaki A et al. | — | 2023 | → |
| Finding Needles in the Haystack: Strategies for Uncovering Noncoding Regulatory Variants. | Chen Y et al. | — | 2023 | → |
| Flame (v2.0): advanced integration and interpretation of functional enrichment results from multiple sources. | Karatzas E et al. | — | 2023 | → |
| Forensic identity SNPs: Characterisation of flanking region variation using massively parallel sequencing. | Davenport L et al. | — | 2023 | → |
| From gene to dose: Long-read sequencing and *-allele tools to refine phenotype predictions of <i>CYP2C19</i>. | Graansma LJ et al. | — | 2023 | → |
| Functional characterization of human genomic variation linked to polygenic diseases. | Fabo T et al. | — | 2023 | → |
| Functional connectivity signatures of NMDAR dysfunction in schizophrenia-integrating findings from imaging genetics and pharmaco-fMRI. | Gaebler AJ et al. | — | 2023 | → |
| Functional interpretation, cataloging, and analysis of 1,341 glucose-6-phosphate dehydrogenase variants. | Geck RC et al. | — | 2023 | → |
| Gaps in current methods to detect polymorphic CpGs from Illumina Infinium human methylation microarrays and exploring their potential impact in multi-EWAS analyses. | Bhat B et al. | — | 2023 | → |
| GeNeo: A Bioinformatics Toolbox for Genomics-Guided Neoepitope Prediction. | Al Seesi S et al. | — | 2023 | → |
| Genes and sites under adaptation at the phylogenetic scale also exhibit adaptation at the population-genetic scale. | Latrille T et al. | — | 2023 | → |
| Gene-specific machine learning for pathogenicity prediction of rare BRCA1 and BRCA2 missense variants. | Kang M et al. | — | 2023 | → |
| Genetic Characterization of Ovarian Tumor Tissues from Patients with Epithelial Ovarian Cancer in a Philippine Tertiary Hospital: A Descriptive Study. | Lintao RCV et al. | — | 2023 | → |
| Genetic determinants of type 1 diabetes in individuals with weak evidence of islet autoimmunity at disease onset. | Carrera P et al. | — | 2023 | → |
| Genetic impacts on DNA methylation help elucidate regulatory genomic processes. | Villicaña S et al. | — | 2023 | → |
| Genetic landscape in Russian patients with familial left ventricular noncompaction. | Meshkov AN et al. | — | 2023 | → |
| Genetic Landscape of Masticatory Muscle Tendon-Aponeurosis Hyperplasia. | Tajima R et al. | — | 2023 | → |
| Genetic Variant in <i>GRM1</i> Underlies Congenital Cerebellar Ataxia with No Obvious Intellectual Disability. | Protasova MS et al. | — | 2023 | → |
| Genetic variation in the human leukocyte antigen region confers susceptibility to Clostridioides difficile infection. | Ferar K et al. | — | 2023 | → |
| GeniePool: genomic database with corresponding annotated samples based on a cloud data lake architecture. | Hadar N et al. | — | 2023 | → |
| Genome-wide analysis of genetic pleiotropy and causal genes across three age-related ocular disorders. | Yao X et al. | — | 2023 | → |
| Genome-wide census of ATF4 binding sites and functional profiling of trait-associated genetic variants overlapping ATF4 binding motifs. | Örd T et al. | — | 2023 | → |
| Genome-wide DNA methylation sequencing identifies epigenetic perturbations in the upper airways under long-term exposure to moderate levels of ambient air pollution. | Messingschlager M et al. | — | 2023 | → |
| Genomic Alterations, Gene Expression Profiles and Functional Enrichment of Normal-Karyotype Acute Myeloid Leukaemia Based on Targeted Next-Generation Sequencing. | Ambayya A et al. | — | 2023 | → |
| Genomic analysis of breast cancer patients from Kerala: A novel BRCA1 mutation detected. | Dharmarajan A et al. | — | 2023 | → |
| Genomic and transcriptomic analyses of thyroid cancers identify DICER1 somatic mutations in adult follicular-patterned RAS-like tumors. | Minna E et al. | — | 2023 | → |
| Genomic regions associated with pseudorabies virus infection status in naturally infected feral swine (<i>Sus scrofa</i>). | Bowden CF et al. | — | 2023 | → |
| Germline genetic variants are associated with development of insulin-dependent diabetes in cancer patients treated with immune checkpoint inhibitors. | Caulfield JI et al. | — | 2023 | → |
| Gluconic acid improves performance of newly weaned piglets associated with alterations in gut microbiome and fermentation. | Michiels J et al. | — | 2023 | → |
| GNAEMDA: Microbe-Drug Associations Prediction on Graph Normalized Convolutional Network. | Huang H et al. | — | 2023 | → |
| HALD, a human aging and longevity knowledge graph for precision gerontology and geroscience analyses. | Wu Z et al. | — | 2023 | → |
| Haplotype-based analysis resolves missing heritability in oculocutaneous albinism type 1B. | Loftus SK et al. | — | 2023 | → |
| Heme Interactions as Regulators of the Alternative Pathway Complement Responses and Implications for Heme-Associated Pathologies. | Tsiftsoglou SA | — | 2023 | → |
| High risk genetic variants of human insulin receptor substrate 1(IRS1) infer structural instability and functional interference. | Bhattacharjee A et al. | — | 2023 | → |
| High throughput single cell long-read sequencing analyses of same-cell genotypes and phenotypes in human tumors. | Shiau CK et al. | — | 2023 | → |
| hipFG: high-throughput harmonization and integration pipeline for functional genomics data. | Cifello J et al. | — | 2023 | → |
| How Deepbics Quantifies Intensities of Transcription Factor-DNA Binding and Facilitates Prediction of Single Nucleotide Variant Pathogenicity With a Deep Learning Model Trained On ChIP-Seq Data Sets. | Quan L et al. | — | 2023 | → |
| Human-genome single nucleotide polymorphisms affecting transcription factor binding and their role in pathogenesis. | Antontseva EV et al. | — | 2023 | → |
| <i>BRCA 1/BRCA 2</i> Pathogenic/Likely Pathogenic Variant Patients with Breast, Ovarian, and Other Cancers. | Osman K et al. | — | 2023 | → |
| Identification of a Novel <i>FOXP1</i> Variant in a Patient with Hypotonia, Intellectual Disability, and Severe Speech Impairment. | Benvenuto M et al. | — | 2023 | → |
| Identification of Compound Heterozygous <i>EVC2</i> Gene Variants in Two Mexican Families with Ellis-van Creveld Syndrome. | Negrete-Torres N et al. | — | 2023 | → |
| Identification of MKI67, TPR , and TCHH Mutations as Prognostic Biomarkers for Patients With Defective Mismatch Repair Colon Cancer Stage II/III. | Lv J et al. | — | 2023 | → |
| Identifying genetic variants for amyloid β in subcortical vascular cognitive impairment. | Kim HR et al. | — | 2023 | → |
| Identifying potential ligand molecules EGFR mediated TNBC targeting the kinase domain-identification of customized drugs through <i>in silico</i> methods. | Vyshnavi H et al. | — | 2023 | → |
| Identifying predictors of glioma evolution from longitudinal sequencing. | Mu Q et al. | — | 2023 | → |
| Identifying the genetic causes of phenotypically diagnosed Pakistani mucopolysaccharidoses patients by whole genome sequencing. | Gul R et al. | — | 2023 | → |
| <i>DSP</i>-Related Cardiomyopathy as a Distinct Clinical Entity? Emerging Evidence from an Italian Cohort. | Di Lorenzo F et al. | — | 2023 | → |
| <i>In Silico</i> Analysis of nsSNPs of Human KRAS Gene and Protein Modeling Using Bioinformatic Tools. | Xu D et al. | — | 2023 | → |
| Immunoinformatics analysis of Brucella melitensis to approach a suitable vaccine against brucellosis. | Hashemzadeh P et al. | — | 2023 | → |
| Impact of highly deleterious non-synonymous polymorphisms on GRIN2A protein's structure and function. | Ahammad I et al. | — | 2023 | → |
| Impact of the time interval between primary or interval surgery and adjuvant chemotherapy in ovarian cancer patients. | Farolfi A et al. | — | 2023 | → |
| Importance of N-Glycosylation for the Expression and Function of Human Organic Anion Transporting Polypeptide 2B1. | Li Y et al. | — | 2023 | → |
| Influence of Admixture on Phenotypes. | Brugger SW et al. | — | 2023 | → |
| <i>N</i>-Glycoprofiling of SLC35A2-CDG: Patient with a Novel Hemizygous Variant. | Kodríková R et al. | — | 2023 | → |
| Insights into Online microRNA Bioinformatics Tools. | Luna Buitrago D et al. | — | 2023 | → |
| In silico analysis of missense SNPs in TNFR1a and their possible therapeutic or pathogenic role in immune diseases. | Arshad M et al. | — | 2023 | → |
| In-silico assessment of high-risk non-synonymous SNPs in ADAMTS3 gene associated with Hennekam syndrome and their impact on protein stability and function. | Shinwari K et al. | — | 2023 | → |
| In silico prioritisation of microRNA-associated common variants in multiple sclerosis. | Fashina IA et al. | — | 2023 | → |
| In silico profiling of nonsynonymous SNPs of fat mass and obesity-associated gene: possible impacts on the treatment of non-alcoholic fatty liver disease. | Patnaik D et al. | — | 2023 | → |
| Integrated Multi-omics Analysis of Early Lung Adenocarcinoma Links Tumor Biological Features with Predicted Indolence or Aggressiveness. | Senosain MF et al. | — | 2023 | → |
| Integrative Analyses of Mendelian Randomization and Transcriptomic Data Reveal No Association between Leptin and Chronic Obstructive Pulmonary Disease. | Zhang A et al. | — | 2023 | → |
| Integrative analysis of Mendelian randomization and gene expression profiles reveals a null causal relationship between adiponectin and diabetic retinopathy. | Zhang A et al. | — | 2023 | → |
| Integrator complex subunit 15 controls mRNA splicing and is critical for eye development. | Azuma N et al. | — | 2023 | → |
| Intratumoral androgen biosynthesis associated with 3β-hydroxysteroid dehydrogenase 1 promotes resistance to radiotherapy in prostate cancer. | Ganguly S et al. | — | 2023 | → |
| Investigation of pathogenic germline variants in gastric cancer and development of "GasCanBase" database. | Hossain MU et al. | — | 2023 | → |
| Is the Association of the Rare rs35667974 IFIH1 Gene Polymorphism With Autoimmune Diseases a Case of RNA Epigenetics? | Andreou A et al. | — | 2023 | → |
| Lactylome analysis suggests lactylation-dependent mechanisms of metabolic adaptation in hepatocellular carcinoma. | Yang Z et al. | — | 2023 | → |
| Lenvatinib activates anti-tumor immunity by suppressing immunoinhibitory infiltrates in the tumor microenvironment of advanced hepatocellular carcinoma. | Yamauchi M et al. | — | 2023 | → |
| <i>In silico</i> analysis of substitution mutations in the β-globin gene in Turkish population of β-thalassemia. | Alkilani S et al. | — | 2023 | → |
| Machine learning-based somatic variant calling in cell-free DNA of metastatic breast cancer patients using large NGS panels. | Jongbloed EM et al. | — | 2023 | → |
| Managing genomic diversity in conservation programs of Chinese domestic chickens. | Zhang M et al. | — | 2023 | → |
| Mendelian randomization analysis suggests no causal influence of gastroesophageal reflux disease on the susceptibility and prognosis of idiopathic pulmonary fibrosis. | Sun D et al. | — | 2023 | → |
| Meta-analysis of commonly mutated genes in leptomeningeal carcinomatosis. | Congur I et al. | — | 2023 | → |
| Methylation-directed regulatory networks determine enhancing and silencing of mutation disease driver genes and explain inter-patient expression variation. | Edrei Y et al. | — | 2023 | → |
| Methylation in MAD1L1 is associated with the severity of suicide attempt and phenotypes of depression. | Sokolov AV et al. | — | 2023 | → |
| Microsatellites used in forensics are in regions enriched for trait-associated variants. | Link V et al. | — | 2023 | → |
| MMPatho: Leveraging Multilevel Consensus and Evolutionary Information for Enhanced Missense Mutation Pathogenic Prediction. | Ge F et al. | — | 2023 | → |
| Molecular Biomarker Identification Using a Network-Based Bioinformatics Approach That Links COVID-19 With Smoking. | Rahman MA et al. | — | 2023 | → |
| Molecular Genetic Characteristics of <i>FANCI</i>, a Proposed New Ovarian Cancer Predisposing Gene. | Fierheller CT et al. | — | 2023 | → |
| Multifactor dimensionality reduction method identifies novel SNP interactions in the WNT protein interaction networks that are associated with recurrence risk in colorectal cancer. | Curtis AA et al. | — | 2023 | → |
| Multi-phasic gene profiling using candidate gene approach predict the capacity of specific antibody production and maintenance following COVID-19 vaccination in Japanese population. | Takemoto Y et al. | — | 2023 | → |
| Mutate and observe: utilizing deep neural networks to investigate the impact of mutations on translation initiation. | Ozbulak U et al. | — | 2023 | → |
| Mutational signatures association with replication timing in normal cells reveals similarities and differences with matched cancer tissues. | Yaacov A et al. | — | 2023 | → |
| ncOrtho: efficient and reliable identification of miRNA orthologs. | Langschied F et al. | — | 2023 | → |
| Neoadjuvant therapy with immune checkpoint blockade, antiangiogenesis, and chemotherapy for locally advanced gastric cancer. | Li S et al. | — | 2023 | → |
| Neural functions in cancer: Data analyses and database construction. | Tan R et al. | — | 2023 | → |
| Noninvasive genomic profiling of somatic mutations in oral cavity cancers. | Xi Y et al. | — | 2023 | → |
| Novel homozygous leptin receptor mutation in an infant with monogenic obesity. | Boro H et al. | — | 2023 | → |
| Origin matters: Using a local reference genome improves measures in population genomics. | Thorburn DJ et al. | — | 2023 | → |
| Overlaps Between CDS Regions of Protein-Coding Genes in the Human Genome: A Case Study on the NR1D1-THRA Gene Pair. | Bukhnikashvili L | — | 2023 | → |
| Pathogenic signal peptide variants in the human genome. | Gutierrez Guarnizo SA et al. | — | 2023 | → |
| Pathogenic variants of Alport syndrome and monogenic diabetes identified by exome sequencing in a family. | Watanabe H et al. | — | 2023 | → |
| PD-L1 expression-related PI3K pathway correlates with immunotherapy efficacy in gastric cancer. | Liu L et al. | — | 2023 | → |
| Personalised circulating tumour DNA assay with large-scale mutation coverage for sensitive minimal residual disease detection in colorectal cancer. | Ryoo SB et al. | — | 2023 | → |
| Pervasive Sharing of Causal Genetic Risk Factors Contributes to Clinical and Molecular Overlap between Sjögren's Disease and Systemic Lupus Erythematosus. | Chau K et al. | — | 2023 | → |
| PeSTo: parameter-free geometric deep learning for accurate prediction of protein binding interfaces. | Krapp LF et al. | — | 2023 | → |
| Pharmacogenetic Variation in Neanderthals and Denisovans and Implications for Human Health and Response to Medications. | Wroblewski TH et al. | — | 2023 | → |
| Pharmacogenomics of Cardiovascular Drugs for Atherothrombotic, Thromboembolic and Atherosclerotic Risk. | Mauriello A et al. | — | 2023 | → |
| Potential Involvement of LncRNAs in Cardiometabolic Diseases. | Ilieva M et al. | — | 2023 | → |
| Predicting functional consequences of SNPs on mRNA translation via machine learning. | Li Z et al. | — | 2023 | → |
| Prediction of pathogenic single amino acid substitutions using molecular fragment descriptors. | Zadorozhny A et al. | — | 2023 | → |
| Predictive modelling for the diagnosis of oral and laryngeal premalignant and malignant lesions using p53 and Ki-67 expression. | Jeong JS et al. | — | 2023 | → |
| Preoperative ctDNA Levels Are Associated With Poor Overall Survival in Patients With Ovarian Cancer. | Dobilas A et al. | — | 2023 | → |
| Profiles of global mutations in the human intercellular adhesion molecule-1 (ICAM-1) shed light on population-specific malaria susceptibility. | Gill J et al. | — | 2023 | → |
| Protein coding variation in the J:ARC and J:DO outbred laboratory mouse stocks provides a molecular basis for distinct research applications. | Cornes BK et al. | — | 2023 | → |
| Proteogenomic Features of the Highly Polymorphic Histidine-rich Glycoprotein Arose Late in Evolution. | Zou Y et al. | — | 2023 | → |
| Proteogenomics of different urothelial bladder cancer stages reveals distinct molecular features for papillary cancer and carcinoma in situ. | Yao Z et al. | — | 2023 | → |
| Proteogenomics of diffuse gliomas reveal molecular subtypes associated with specific therapeutic targets and immune-evasion mechanisms. | Wang Y et al. | — | 2023 | → |
| Proteome-Wide Structural Computations Provide Insights into Empirical Amino Acid Substitution Matrices. | Aledo P et al. | — | 2023 | → |
| Recessive pathogenic variants in <i>MCAT</i> cause combined oxidative phosphorylation deficiency. | Webb BD et al. | — | 2023 | → |
| Regulation of Human Endogenous Metabolites by Drug Transporters and Drug Metabolizing Enzymes: An Analysis of Targeted SNP-Metabolite Associations. | Granados JC et al. | — | 2023 | → |
| Role of FKBP5 and its genetic mutations in stress-induced psychiatric disorders: an opportunity for drug discovery. | Malekpour M et al. | — | 2023 | → |
| SARS-CoV-2 vaccine breakthrough infections (VBI) by Omicron variant (B.1.1.529) and consequences in structural and functional impact. | Abduljaleel Z et al. | — | 2023 | → |
| SAV-Pred: A Freely Available Web Application for the Prediction of Pathogenic Amino Acid Substitutions for Monogenic Hereditary Diseases Studied in Newborn Screening. | Zadorozhny AD et al. | — | 2023 | → |
| Semantic and Population Analysis of the Genetic Targets Related to COVID-19 and Its Association with Genes and Diseases. | Papageorgiou L et al. | — | 2023 | → |
| Sequence-based allelic variations and frequencies for 22 autosomal STR loci in the Lebanese population. | Riman S et al. | — | 2023 | → |
| Sequence-Based Platforms for Discovering Biomarkers in Liquid Biopsy of Non-Small-Cell Lung Cancer. | Brockley LJ et al. | — | 2023 | → |
| Signal Transducer and Activator of Transcription 6 Changes and Protein Frustration by Single Amino Acid Substitutions: Implications for Cancer Progression. | Alharethi SH et al. | — | 2023 | → |
| SNP Array Screening and Long Range PCR-Based Targeted Next Generation Sequencing for Autosomal Recessive Disease with Consanguinity: Insight from a Case of Xeroderma Pigmentosum Group C. | Nomura F et al. | — | 2023 | → |
| SNPeffect 5.0: large-scale structural phenotyping of protein coding variants extracted from next-generation sequencing data using AlphaFold models. | Janssen K et al. | — | 2023 | → |
| Spatiotemporal assessment of immunogenomic heterogeneity in multiple myeloma. | Merz M et al. | — | 2023 | → |
| Streamlining Genetic Diagnosis With Long-Range Polymerase Chain Reaction (PCR)-Based Next-Generation Sequencing for Type I and Type II Collagenopathies. | Niida Y et al. | — | 2023 | → |
| Striated muscle-specific base editing enables correction of mutations causing dilated cardiomyopathy. | Grosch M et al. | — | 2023 | → |
| Structural and genomic analysis of single nucleotide polymorphisms in human host factor endothelial protein C receptor (EPCR) reveals complex interplay with malaria parasites. | Gill J et al. | — | 2023 | → |
| SUFU promotes GLI activity in a Hedgehog-independent manner in pancreatic cancer. | Paradise BD et al. | — | 2023 | → |
| Systematic review of SLC4A11, ZEB1, LOXHD1, and AGBL1 variants in the development of Fuchs' endothelial corneal dystrophy. | Tsedilina TR et al. | — | 2023 | → |
| Target-capture full-length double-stranded cDNA long-read sequencing through Nanopore revealed novel intron retention in patient with tuberous sclerosis complex. | Ura H et al. | — | 2023 | → |
| Targeted genotyping of COVID-19 patients reveals a signature of complement C3 and factor B coding SNPs associated with severe infection. | Tsiftsoglou SA et al. | — | 2023 | → |
| Test development, optimization and validation of a WGS pipeline for genetic disorders. | Yang Z et al. | — | 2023 | → |
| The association of genetic factors with serum calretinin levels in asbestos-related diseases. | Zupanc C et al. | — | 2023 | → |
| The EN-TEx resource of multi-tissue personal epigenomes & variant-impact models. | Rozowsky J et al. | — | 2023 | → |
| The Epithelial Sodium Channel-An Underestimated Drug Target. | Lemmens-Gruber R et al. | — | 2023 | → |
| The Extent of Edgetic Perturbations in the Human Interactome Caused by Population-Specific Mutations. | Cui H et al. | — | 2023 | → |
| The Genetic Background of Hearing Loss in Patients with EVA and Cochlear Malformation. | Bałdyga N et al. | — | 2023 | → |
| The hospital Israelita Albert Einstein standards for constitutional sequence variants classification: version 2023. | Quaio CRDC et al. | — | 2023 | → |
| The <i>HLA-B*57:01</i> allele corresponds to a very large <i>MHC</i> haploblock likely explaining its massive effect for HIV-1 elite control. | Rahmouni M et al. | — | 2023 | → |
| The impact of local genomic properties on the evolutionary fate of genes. | Hara Y et al. | — | 2023 | → |
| The Landscape of Single Nucleotide Polymorphisms in Papillary Thyroid Carcinoma. | Kyrodimos E et al. | — | 2023 | → |
| The LHX2-OTX2 transcriptional regulatory module controls retinal pigmented epithelium differentiation and underlies genetic risk for age-related macular degeneration. | Cohen-Gulkar M et al. | — | 2023 | → |
| The Potential Regulation of A-to-I RNA Editing on Genes in Parkinson's Disease. | Wu S et al. | — | 2023 | → |
| The Role of Genetics in Preterm Birth. | Mead EC et al. | — | 2023 | → |
| The Spectrum of MORC2-Related Disorders: A Potential Link to Cockayne Syndrome. | Stafki SA et al. | — | 2023 | → |
| TP53 mutations in Romanian patients with colorectal cancer. | Manirakiza F et al. | — | 2023 | → |
| Transcription dosage compensation does not occur in Down syndrome. | Hunter S et al. | — | 2023 | → |
| Tri©DB: an integrated platform of knowledgebase and reporting system for cancer precision medicine. | Jiang W et al. | — | 2023 | → |
| Ultra-low-coverage genome-wide association study-insights into gestational age using 17,844 embryo samples with preimplantation genetic testing. | Li S et al. | — | 2023 | → |
| Understanding how transmembrane domains regulate interactions between human BST-2 and the SARS-CoV-2 accessory protein ORF7a. | Mann MM et al. | — | 2023 | → |
| Understanding Insulin in the Age of Precision Medicine and Big Data: Under-Explored Nature of Genomics. | Cook TW et al. | — | 2023 | → |
| VariBench, new variation benchmark categories and data sets. | Shirvanizadeh N et al. | — | 2023 | → |
| vcfdist: accurately benchmarking phased small variant calls in human genomes. | Dunn T et al. | — | 2023 | → |
| Whole-Exome and Transcriptome Sequencing Expands the Genotype of Majewski Osteodysplastic Primordial Dwarfism Type II. | Marzano F et al. | — | 2023 | → |
| Whole exome sequencing analysis of canine urothelial carcinomas without BRAF V595E mutation: Short in-frame deletions in BRAF and MAP2K1 suggest alternative mechanisms for MAPK pathway disruption. | Thomas R et al. | — | 2023 | → |
| Whole exome sequencing identifies MAP3K1, MSH2, and MLH1 as potential cancer-predisposing genes in familial early-onset colorectal cancer. | Fatemi N et al. | — | 2023 | → |
| Whole-exome sequencing of oral epithelial dysplasia samples reveals an association with new genes. | Adorno-Farias D et al. | — | 2023 | → |
| Whole Exome-Trio Analysis Reveals Rare Variants Associated with Congenital Pouch Colon. | Gupta S et al. | — | 2023 | → |
| Whole-genome resequencing of the native sheep provides insights into the microevolution and identifies genes associated with reproduction traits. | Zhu M et al. | — | 2023 | → |
| Whole-genome sequencing reveals a complex African population demographic history and signatures of local adaptation. | Fan S et al. | — | 2023 | → |
| Whole genome sequencing reveals population diversity and variation in HIV-1 specific host genes. | Thami PK et al. | — | 2023 | → |
| Why does the X chromosome lag behind autosomes in GWAS findings? | Gorlov IP et al. | — | 2023 | → |
| DeteX: A highly accurate software for detecting SNV and InDel in single and paired NGS data in cancer research. | Cui Y et al. | — | 2022 | → |
| Identification and characterization of novel compound heterozygous variants in <i>FSHR</i> causing primary ovarian insufficiency with resistant ovary syndrome. | Chen X et al. | — | 2022 | → |