The Genotype-Tissue Expression (GTEx) project.
paper
Cited
Public
- Authors
- GTEx Consortium
- Year
- 2013
- Journal
- Nature genetics
- PMID
- 23715323
- DOI
- 10.1038/ng.2653
- PMCID
- PMC4010069
Genome-wide association studies have identified thousands of loci for common diseases, but, for the majority of these, the mechanisms underlying disease susceptibility remain unknown. Most associated variants are not correlated with protein-coding changes, suggesting that polymorphisms in regulatory regions probably contribute to many disease phenotypes. Here we describe the Genotype-Tissue Expression (GTEx) project, which will establish a resource database and associated tissue bank for the scientific community to study the relationship between genetic variation and gene expression in human tissues.
Effect of sample size and MAF on power to detect eQTLs. (a) Power for cis-eQTL analysis in which we assume Ξ± = 0.05/200,000, reflecting Bonferroni correction for 200,000 hypotheses based on 20,000 genes and an average of 10 non-redundant SNPs in the region Β±100 kb of each gene. (b) Power for trans-eQTL analysis in which we test 20,000 genes against 5 million SNPS in a total of 1 Γ 1011 tests with Ξ± = 5 Γ 10β13.
1β20 of 26
Next β
| Name | Type |
|---|---|
| acetic acid | drug |
| additional anatomical regions local | anatomy |
| Affymetrix Human Gene 1.1 ST Array local | drug |
| age at death | phenotype |
| Biospecimen Source Sites local | cohort |
| brain | anatomy |
| brain bank | cohort |
| brain stem | anatomy |
| brainstem | anatomy |
| BSS local | cohort |
| caHUB | cohort |
| cancer Human Biobank | cohort |
| CBR local | cohort |
| cerebellum | anatomy |
| cervical spinal cord local | anatomy |
| cis-eQTL | cohort |
| cis regulatory variant local | variant |
| cis-SNP local | variant |
| CNV | variant |
| Comprehensive Biospecimen Resource local | cohort |
| Comprehensive Data Resource local | cohort |
| cortex | anatomy |
| Deceased donors local | cohort |
| DNA | drug |
| donor-level data local | phenotype |
| donors | cohort |
| EBV | drug |
| ELSI study local | cohort |
| eQTLGen Consortium | cohort |
| ethanol consumption | phenotype |
| expression arrays local | drug |
| fat local | drug |
| Full Study Cohort local | cohort |
| gene expression | phenotype |
| gene regulation | phenotype |
| genetic variants | cohort |
| GTEx | cohort |
| GTEx consortium | cohort |
| GTEx donors | cohort |
| GTEx program local | cohort |
| GTEx project | cohort |
| GWAS findings local | phenotype |
| human eQTL studies local | cohort |
| ileal mucosa local | phenotype |
| Illumina HiSeq 2000 | drug |
| Illumina TruSeq RNA protocol local | drug |
| LDACC | cohort |
| Living surgery donors local | cohort |
| lower leg local | drug |
| lymphoblastoid cell lines local | drug |
| lymphoid nodules local | phenotype |
| messenger RNA | drug |
| methanol | drug |
| microRNA | drug |
| molecular phenotypes local | phenotype |
| muscle local | drug |
| National Cancer Institute | cohort |
| NCBI | cohort |
| NCBI dbGaP local | cohort |
| NIH-funded brain bank local | cohort |
| PAXgene Tissue local | drug |
| PAXgene Tissue solution local | drug |
| peripheral blood | drug |
| phenotype data | phenotype |
| Pilot Phase Cohort local | cohort |
| post-mortem donors local | cohort |
| Qiagen | drug |
| reference tissues local | anatomy |
| RNA | drug |
| RNA-seq | drug |
| sample level data local | phenotype |
| sex | phenotype |
| skin | drug |
| SNP | cohort |
| squamous epithelium of the esophageal mucosa local | phenotype |
| transcript | gene |
| trans-eQTL | cohort |
| wet ice local | drug |
| whole brain | anatomy |
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| A genome-wide association study identifies new loci associated with response to SARS-CoV-2 mRNA-1273 vaccine in a cohort of healthy healthcare workers. | Cabrera-Serrano AJ et al. | β | 2025 | β |
| A genome-wide association study of buccal mucosa cancer in India and multi-ancestry meta-analysis discovers risk loci and gene-environment interactions. | Mhatre S et al. | β | 2025 | β |
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| A genome-wide association study of stroke risk in Asian statin users: evidence from KoGES and UK Biobank. | Lee DH et al. | β | 2025 | β |
| A genome-wide cross-trait analysis characterizes the shared genetic architecture between lung and gastrointestinal diseases. | You D et al. | β | 2025 | β |
| A genome-wide SNP-SNP interaction analysis exploring novel interacting loci associated with the risk of recurrence in colorectal cancer. | Curtis AA et al. | β | 2025 | β |
| Aging-associated alterations in gene regulatory networks associate with risk, prognosis and response to therapy in lung adenocarcinoma. | Saha E et al. | β | 2025 | β |
| A highland-adaptation variant near MCUR1 reduces its transcription and attenuates erythrogenesis in Tibetans. | Ping J et al. | β | 2025 | β |
| A large-scale genome-wide association study on female genital tract polyps highlights role of DNA repair, cell proliferation, and cell growth. | Pathare ADS et al. | β | 2025 | β |
| Alterations in Gene Expression and Alternative Splicing Induced by Plasmid-Mediated Overexpression of GFP and <i>P2RY12</i> Within the A549 Cell Line. | Liu Q et al. | β | 2025 | β |
| A Machine-Learning Approach Identifies Rejuvenating Interventions in the Human Brain. | Santamaria G et al. | β | 2025 | β |
| A machine learning-based investigation of integrin expression patterns in cancer and metastasis. | Shadman H et al. | β | 2025 | β |
| A Map of the Lipid-Metabolite-Protein Network to Aid Multi-Omics Integration. | Anyaegbunam UA et al. | β | 2025 | β |
| A Modification to Two-Stage Least Squares With Genetic Applications. | Fang L et al. | β | 2025 | β |
| A Module-Level Polygenic Risk Score-Based NetWAS Framework for Identifying AD Genetic Modules Mediated by Amygdala: An ADNI Study. | Luo H et al. | β | 2025 | β |
| A multimodal whole-slide foundation model for pathology. | Ding T et al. | β | 2025 | β |
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| An African ancestry-specific nonsense variant in CD36 is associated with a higher risk of dilated cardiomyopathy. | Huffman JE et al. | β | 2025 | β |
| An AI-assisted morphoproteomic approach is a supportive tool in esophagitis-related precision medicine. | Mattern S et al. | β | 2025 | β |
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| An Integrated Database for Exploring Alternative Promoters in Animals. | Xue F et al. | β | 2025 | β |
| An integrative systems-biology approach defines mechanisms of Alzheimer's disease neurodegeneration. | Leventhal MJ et al. | β | 2025 | β |
| An <i>in vivo</i> systemic massively parallel platform for deciphering animal tissue-specific regulatory function. | Brown AR et al. | β | 2025 | β |
| An outlier approach: advancing diagnosis of neurological diseases through integrating proteomics into multi-omics guided exome reanalysis. | Chui MM et al. | β | 2025 | β |
| A Novel <i>SLPI</i> Splice Variant Confers Susceptibility to Otitis Media in Humans. | Elling CL et al. | β | 2025 | β |
| A novel method for subgroup discovery in precision medicine based on topological data analysis. | Loughrey CF et al. | β | 2025 | β |
| A novel variant of telomerase reverse transcriptase (TERT) associated with risk of glioma in a Korean population. | Lim HY et al. | β | 2025 | β |
| A polymorphism in the BIN1 gene influences its expression and is associated with the risk of Alzheimer's disease: An integrated analysis. | Wang S et al. | β | 2025 | β |
| Applications for Circulating Cell-Free DNA in Oral Squamous Cell Carcinoma: A Non-Invasive Approach for Detecting Structural Variants, Fusions, and Oncoviruses. | Bhattacharya M et al. | β | 2025 | β |
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| ARHGAP36 serves as a diagnostic and therapeutic marker that mediates immune escape and promotes thyroid cancer metastasis. | Yang L et al. | β | 2025 | β |
| ARNT2-driven transcriptional activation of STRA6 reprograms fatty acid metabolism to promote retroperitoneal liposarcoma progression. | Zhang J et al. | β | 2025 | β |
| A Robust Association Test Leveraging Unknown Genetic Interactions: Application to Cystic Fibrosis Lung Disease. | Kim S et al. | β | 2025 | β |
| Artificial Intelligence in cancer epigenomics: a review on advances in pan-cancer detection and precision medicine. | Sahoo K et al. | β | 2025 | β |
| Artificial intelligence in traditional Chinese medicine: advances in multi-metabolite multi-target interaction modeling. | Li Y et al. | β | 2025 | β |
| A self-supervised learning framework for discovering cortical folding patterns under genetic influence: Application to the Anterior Cingulate Cortex. | Dufournet A et al. | β | 2025 | β |
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| ASpdb: an integrative knowledgebase of human protein isoforms from experimental and AI-predicted structures. | Yang Y et al. | β | 2025 | β |
| Assessing Large Multimodal Models for One-Shot Learning and Interpretability in Biomedical Image Classification. | Hou W et al. | β | 2025 | β |
| Assessing the diagnostic impact of blood transcriptome profiling in a pediatric cohort previously assessed by genome sequencing. | Hou H et al. | β | 2025 | β |
| Assessment of 1863 <i>GRIN2A</i> Variants Contradicts a Role in Tumorigenesis. | Jauss RT et al. | β | 2025 | β |
| Assessment of chemical risk factor for breast cancer based on gene expression profiles. | Achebouche R et al. | β | 2025 | β |
| Association of Functional Gene Variants in DYSF-ZNF638, MTSS1 and Ferroptosis-Related Genes with Multiple Sclerosis Severity and Target Gene Expression. | Djuric T et al. | β | 2025 | β |
| Association of long noncoding RNA MEG3 genetic variants with the risk of diabetic neuropathy. | Fan YC et al. | β | 2025 | β |
| Association of <i>MTNR1B</i> Gene Polymorphisms with Body Mass Index in Hashimoto's Thyroiditis. | Ε krlec I et al. | β | 2025 | β |
| Association of PRMT6 genetic polymorphism with Helicobacter pylori-induced gastric mucosal atrophy was found using a data-driven approach with gene expression database. | Inamine T et al. | β | 2025 | β |
| Association of SULT2A1 Locus With Abiraterone Clearance in the Alliance A031201: Randomized Phase III Study of Enzalutamide Compared With Enzalutamide Plus Abiraterone for Metastatic Castration-Resistant Prostate Cancer. | Norton N et al. | β | 2025 | β |
| Associations of 2923 plasma proteins with incident inflammatory bowel disease in a prospective cohort study and genetic analysis. | Zhang X et al. | β | 2025 | β |
| A Survey for Human Tissue-Level Determinants of CAV1 Regulation and Function. | JimΓ©nez-JimΓ©nez V et al. | β | 2025 | β |
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| A Transcriptome-Wide Mendelian Randomization Study in Isolated Human Immune Cells Highlights Risk Genes Involved in Viral Infections and Potential Drug Repurposing Opportunities for Schizophrenia. | Stacey D et al. | β | 2025 | β |
| A transcriptome-wise Atlas of human prostate as a function of postmortem interval time. | Javan GT et al. | β | 2025 | β |
| A translational multimodal machine-learning prototype predicting valproate response in epilepsy treatment | Platte S et al. | β | 2025 | β |
| A whole-organism landscape of X-inactivation in humans. | Gylemo B et al. | β | 2025 | β |
| BC-predict: mining of signal biomarkers and production of models for early-stage breast cancer subtyping and prognosis. | Muthamilselvan S et al. | β | 2025 | β |
| Benchmark of cellular deconvolution methods using a multi-assay dataset from postmortem human prefrontal cortex. | Huuki-Myers LA et al. | β | 2025 | β |
| Biallelic MED16 variants disrupt neural development and lead to an intellectual disability syndrome. | Huang Y et al. | β | 2025 | β |
| Biallelic null variants in C19orf44 cause a unique late-onset retinal dystrophy phenotype characterized by patchy perifoveal chorioretinal atrophy. | Ehrenberg M et al. | β | 2025 | β |
| Bi-allelic variants in TM2D3 cause a severe syndromic neurodevelopmental disorder associated with endoplasmic reticulum and mitochondrial abnormalities. | Gabillard-Lefort C et al. | β | 2025 | β |
| BioGAN: Enhancing Transcriptomic Data Generation with Biological Knowledge. | Panaccione FP et al. | β | 2025 | β |
| Bioinformatic-based study to investigate the fluctuations and performance of MYD88 and GRB2 gene expression in gastric cancer; Can they be considered diagnostic biomarkers? | Mirnezami SM et al. | β | 2025 | β |
| Bioinformatics approaches to multi-omics analysis of the potential of CDKN2A as a biomarker and therapeutic target for uterine corpus endometrial carcinoma. | Ma L et al. | β | 2025 | β |
| BioRels' data infrastructure: a scientific schema and exchange standard to transform and enhance biological data sciences. | Wang J et al. | β | 2025 | β |
| Blocking nuclear receptor Nr4a3 unlocks the senescence barrier to promote direct cardiac reprogramming. | Liu M et al. | β | 2025 | β |
| Blood Single-Cell Transcriptomic and Proteomic Signatures of Paradoxical Eczema in Patients with Psoriasis Treated with Biologics. | Al-Janabi A et al. | β | 2025 | β |
| BMP2 Pan-Cancer Analysis in Multiple Tumor Types of TCGA Datasets. | Liu F et al. | β | 2025 | β |
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| BRSK2 plays a role in autophagy and cancer cell growth and survival under nutrient deprivation stress via the PIK3C3 pathway. | Maiti A et al. | β | 2025 | β |
| Calcium modulating ligand confers risk for Parkinson's disease and impacts lysosomes. | Zhang H et al. | β | 2025 | β |
| Cancer cell and microenvironmental rewiring by ADAR1 loss impairs glioblastoma tumor growth and extends survival. | Γlvarez-Prado ΓF et al. | β | 2025 | β |
| Cancer-Type-Specific DNA Methylation Is a Source of Vulnerability in Liver Cancer Cells. | Minowa K et al. | β | 2025 | β |
| Canine genome-wide association study identifies <i>DENND1B</i> as an obesity gene in dogs and humans. | Wallis NJ et al. | β | 2025 | β |
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| Case Study: Genetic and In Silico Analysis of Familial Pancreatitis. | Sharma Y et al. | β | 2025 | β |
| Causal Relationships Between Neuropathic Pain and Alzheimer's Disease: A Multi-Omics Mendelian Randomization Study with Exploratory Evidence of a Potential Protective Role of Diabetic Neuropathy. | Li X et al. | β | 2025 | β |
| CDK4/6 inhibition reprograms the breast cancer immunopeptidome via Rb-dependent chromatin and transcriptomic remodeling. | Minati R et al. | β | 2025 | β |
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| CK2: The master regulator in tumor immune-microenvironment - A crucial target in oncotherapy. | Karmakar S et al. | β | 2025 | β |
| Classification and Quantification of Unproductive Splicing Events. | Zavileyskiy LG et al. | β | 2025 | β |
| Classification of Diabetic Patients Using a Network Representation of Their Metabolism. | Kusumastuti A et al. | β | 2025 | β |
| Clinical applications of and molecular insights from RNA sequencing in a rare disease cohort. | Stark JC et al. | β | 2025 | β |
| Combating Genetic Heterogeneity for Polygenic Prediction of Susceptibility to Brain Ξ²-Amyloid Deposition: Beyond <i>APOE</i>. | Ramanan VK et al. | β | 2025 | β |
| Combined SNPs sequencing and allele specific proteomics capture reveal functional causality underpinning the 2p25 prostate cancer susceptibility locus. | Dong D et al. | β | 2025 | β |
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| Common and rare variant analyses implicate late-infancy cerebellar development and immune genes in ADHD. | Zhong Y et al. | β | 2025 | β |
| Comprehensive analysis of the role of Caspases in glioma. | Wang H et al. | β | 2025 | β |
| Comprehensive evaluation of methods for identifying tissues or cell types of origin of the plasma cell-free transcriptome. | Yang T et al. | β | 2025 | β |
| Comprehensive genetic analysis based on multi - omics reveals novel therapeutic targets for mitral valve prolapse and drug molecular dynamics simulation. | Chen B et al. | β | 2025 | β |
| Comprehensive pan-cancer analysis reveals NTN1 as an immune infiltrate risk factor and its potential prognostic value in SKCM. | Luan F et al. | β | 2025 | β |
| Comprehensive pan-cancer multi-omics analysis of ATAD2 in human cancers. | Liang S et al. | β | 2025 | β |
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| Construction, Deployment, and Usage of the Human Reference Atlas Knowledge Graph. | Bueckle A et al. | β | 2025 | β |
| Context-specific eQTLs provide deeper insight into causal genes underlying shared genetic architecture of COVID-19 and idiopathic pulmonary fibrosis. | Dalapati T et al. | β | 2025 | β |
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| CoTF-reg reveals cooperative transcription factors in oligodendrocyte gene regulation using single-cell multi-omics. | Choi JJ et al. | β | 2025 | β |
| Coupling deep phenotypic quantification with next-generation phenotyping for 192 individuals with germline histonopathies. | Lubin EE et al. | β | 2025 | β |
| CREATE: cell-type-specific cis-regulatory element identification via discrete embedding. | Cui X et al. | β | 2025 | β |
| Cross-ancestry genome-wide association study identifies new susceptibility genes for preeclampsia. | Shan Y et al. | β | 2025 | β |
| Cross-tissue multicellular coordination and its rewiring in cancer. | Shi Q et al. | β | 2025 | β |
| Cross-tissue transcriptome-wide association study reveals novel psoriasis susceptibility genes. | Yan F et al. | β | 2025 | β |
| C-terminal frameshift variants in GPKOW are associated with a multisystemic X-linked disorder. | Mok JW et al. | β | 2025 | β |
| Cutting-edge technologies illuminate the neural landscape of cancer: Insights into tumor development. | Wang Y et al. | β | 2025 | β |
| CX26 promotes pancreatic cancer progression by competitively inhibiting interaction of c-Myc with PSMD2 and enhancing c-Myc stability. | He C et al. | β | 2025 | β |
| Cytidine diphosphate diacylglycerol synthase 2 is a synthetic lethal target in mesenchymal-like cancers. | Arnoldus T et al. | β | 2025 | β |
| Data-driven discovery of gene expression markers distinguishing pediatric acute lymphoblastic leukemia subtypes. | Nourbakhsh M et al. | β | 2025 | β |
| Deciphering human endogenous retrovirus expression in colorectal cancers: exploratory analysis regarding prognostic value in liver metastases. | Viot J et al. | β | 2025 | β |
| Deciphering mechanisms leading to preterm birth through post-GWAS integration of multi-omics data. | Bhattacharjee E et al. | β | 2025 | β |
| Deciphering the rules of disulfidptosis: a genome-wide signature for identifying disulfidptosis-related genes and analyzing hepatocellular carcinoma chemotherapy sensitivities. | Zhang Y et al. | β | 2025 | β |
| Declining activity of serum response factor in aging aorta in relation to aneurysm progression. | Rippe C et al. | β | 2025 | β |
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| Deep learning and genome-wide association meta-analyses of bone marrow adiposity in the UK Biobank. | Xu W et al. | β | 2025 | β |
| Deficiency of the Synaptic Adhesion Protein Leucine-Rich Repeat Transmembrane Protein 4 Like 1 Affects Anxiety and Aggression in Zebrafish. | Tatzl E et al. | β | 2025 | β |
| Defining ortholog-specific UHRF1 inhibition by STELLA for cancer therapy. | Bai W et al. | β | 2025 | β |
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| Design and Synthesis of Hydroxamate-Based Matrix Metalloproteinase-2 Inhibitors for Anti-Photoaging. | Lee JY et al. | β | 2025 | β |
| Detection of Brain Cancer Using Genome-wide Cell-free DNA Fragmentomes. | Mathios D et al. | β | 2025 | β |
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| Developing a novel aging assessment model to uncover heterogeneity in organ aging and screening of aging-related drugs. | Xu Y et al. | β | 2025 | β |
| Development and validation of G2M signature-based prognostic model for stratifying colon cancer prognosis. | Song X et al. | β | 2025 | β |
| Development of a Novel Prognostic Model for Lung Adenocarcinoma Utilizing Pyroptosis-Associated LncRNAs. | Bai HY et al. | β | 2025 | β |
| Development of Mathematical Models Using circRNA Combinations (<i>circTulp4</i>, <i>circSlc8a1</i>, and <i>circStrn3</i>) in Mouse Brain Tissue for Postmortem Interval Estimation. | Song B et al. | β | 2025 | β |
| Differences in Pathogenetic Mechanism Between Tibetan and Han High-Altitude Polycythemia Based on a Whole Genome-Wide Association Study. | Basang Z et al. | β | 2025 | β |
| Differences in the distribution of HER2-positive breast tumors according to ethnicity and genetic variants in <i>ERBB2</i>: a special focus on Asian and Latina women. | Rey-Vargas L et al. | β | 2025 | β |
| Different Contribution of Missense and Loss-of-Function Variants to the Genetic Structure of Familial and Sporadic Meniere Disease. | Parra-Perez AM et al. | β | 2025 | β |
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| Direct-acting antiviral treatment impact on glycemic control in HCV-infected T2DM patients: An observational study with Mendelian randomization analysis. | Tang J et al. | β | 2025 | β |
| Discovery of Novel Protein-Coding and Long Non-coding Transcripts in Distinct Regions of the Human Brain. | Santucci K et al. | β | 2025 | β |
| Discovery of obesity genes through cross-ancestry analysis. | Banerjee D et al. | β | 2025 | β |
| Disruption of Swell1/VRAC function impairs initial hemodynamics and activates compensatory leukotriene signaling in zebrafish circulation development. | Tseng YT et al. | β | 2025 | β |
| Dissect Gender-Dependent Susceptibility SNPs in Progressive Osteoarthritis Using Regulator Motif Candidate of Genetic Association Strategy (RMCGA). | Bai YS et al. | β | 2025 | β |
| Dissecting genetic regulation of metabolic coordination. | Hector EC et al. | β | 2025 | β |
| Dissecting RNA selectivity mediated by tandem RNA-binding domains. | Harris SE et al. | β | 2025 | β |
| Distinct epigenetic and transcriptional profiles of Epstein-Barr virus-positive and negative primary CNS lymphomas. | Hai L et al. | β | 2025 | β |
| DNA methylation markers of insulin resistance surrogate measures in the Atherosclerosis Risk in Communities (ARIC) study. | Shin J et al. | β | 2025 | β |
| Does drug repurposing bridge the gaps in management of Parkinson's disease? Unravelling the facts and fallacies. | Bashir B et al. | β | 2025 | β |
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| Druggable Targets for Pelvic Inflammatory Disease: Mendelian Randomization and Experimental Validation. | Dang C et al. | β | 2025 | β |
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| Dysregulated Gene Expression: A Candidate Mechanism for Anxiety Disorders. | Traenkner D et al. | β | 2025 | β |
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| Effects of ageing and exercise training on cerebrovascular vasomotor reactivity, depressive behaviour and the hippocampal transcriptome. | Scheuermann B et al. | β | 2025 | β |
| Efficient and accurate search in petabase-scale sequence repositories. | Karasikov M et al. | β | 2025 | β |
| EGFR-induced lncRNA <i>TRIDENT</i> promotes drug resistance in non-small cell lung cancer via phospho-TRIM28-mediated DNA damage repair. | Saxena T et al. | β | 2025 | β |
| EI24 binds to IGF1R, enhancing glucose homeostasis and fostering healthy aging in male mice. | Kim YM et al. | β | 2025 | β |
| Eliosin-an alternative product from the HmPKD1 locus is a component of endoplasmic reticulum mitochondria membrane contact sites. | Kurbegovic A et al. | β | 2025 | β |
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| Emerging targets of Ξ±-synuclein spreading in Ξ±-synucleinopathies: a review of mechanistic pathways and interventions. | Kuo G et al. | β | 2025 | β |
| Endogenous viral elements constitute a complementary source of antigens for personalized cancer vaccines. | Garde C et al. | β | 2025 | β |
| Engineered Proteins and Chemical Tools to Probe the Cell Surface Proteome. | Leung KK et al. | β | 2025 | β |
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| Epigenetic profiles of tissue informative CpGs inform ALS disease status and progression. | Caggiano C et al. | β | 2025 | β |
| Epigenome-Wide Association Study of Asthma Exacerbations in Europeans. | Martin-Gonzalez E et al. | β | 2025 | β |
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| Ergothioneine controls mitochondrial function and exercise performance via direct activation of MPST. | Sprenger HG et al. | β | 2025 | β |
| ERH Impacts Patient Prognosis and Tumor Immune Microenvironment: A Pan-Cancer Analysis. | Gong Q et al. | β | 2025 | β |
| ERK3/MAPK6 promotes triple-negative breast cancer progression through collective migration and EMT plasticity. | Morazzo S et al. | β | 2025 | β |
| Estrogen receptor expression in human tumors: A tissue microarray study evaluating more than 18,000 tumors from 149 different entities. | Viehweger F et al. | β | 2025 | β |
| Estrogen-related receptor gene expression associates with sex differences in cortical atrophy in isolated REM sleep behavior disorder. | Filiatrault M et al. | β | 2025 | β |
| Evaluating the Potential of PSMA Targeting in CNS Tumors: Insights from Large-Scale Transcriptome Profiling. | Kraya A et al. | β | 2025 | β |
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| Evaluation of the causal relationship between 28 circulating biomarkers and osteoarthritis : a bidirectional Mendelian randomization study. | Zhu XW et al. | β | 2025 | β |
| EXO1's pan-cancer roles: diagnostic, prognostic, and immunological analyses through bioinformatics. | Liu Z et al. | β | 2025 | β |
| Exome sequencing identifies protein-coding variants associated with loneliness and social isolation. | Wang YX et al. | β | 2025 | β |
| Exome-wide association study identifies a phosphatidylethanolamine-binding protein 4 variant associated with idiopathic pulmonary fibrosis risk in Koreans. | Lee JU et al. | β | 2025 | β |
| Exploring CISD1 as a multifaceted biomarker in cancer: Implications for diagnosis, prognosis, and immunotherapeutic response. | Li C et al. | β | 2025 | β |
| Exploring GPR120/FFAR4 pharmacology: Unveiling novel therapeutic avenues through molecular signaling pathways for Alzheimer's disease intervention. | Gogu P et al. | β | 2025 | β |
| Exploring rare coding variants in UK biobank: preliminary associations with motor neuron disease. | Hu Z et al. | β | 2025 | β |
| Exploring the dynamic pathogenesis of Parkinson's disease by case-control and longitudinal blood transcriptome analyses. | Xue G et al. | β | 2025 | β |
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| Exploring therapeutic paradigm focusing on genes, proteins, and pathways to combat leprosy and tuberculosis: A network medicine and drug repurposing approach. | Imran M et al. | β | 2025 | β |
| Exploring the relationship between melanopsin gene variants, sleep, and markers of brain health. | Milligan Armstrong A et al. | β | 2025 | β |
| Exploring the relationship between MGAT2 and glioblastoma: A Mendelian Randomization and bioinformatics approach. | Qiu Z et al. | β | 2025 | β |
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| Expression quantitative trait loci (eQTL): from population genetics to precision medicine. | Wong ZQ et al. | β | 2025 | β |
| FactVAE: a factorized variational autoencoder for single-cell multi-omics data integration analysis. | Wang L et al. | β | 2025 | β |
| Familial RPL26 Variant Causing Congenital Anomalies Without Hematological Features of Diamond Blackfan Anemia. | Karger LM et al. | β | 2025 | β |
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| Fes-Deficient Macrophages Prime CD8+ T Cells to Stimulate Antitumor Immunity and Improve Immunotherapy Efficacy. | Laight BJ et al. | β | 2025 | β |
| From blood vessels to brain cells: Connecting the circulatory system and Parkinson's disease. | Olaoye OJ et al. | β | 2025 | β |
| From Genome-Wide SNPs to Neuroimmune Crosstalk: Mapping the Genetic Landscape of IBD and Its Brain Overlap. | Tripathi U et al. | β | 2025 | β |
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| Functional Determinants and Evolutionary Consequences of Pleiotropy in Complex and Mendelian Traits. | Barbitoff YA et al. | β | 2025 | β |
| GEMDiff: a diffusion workflow bridges between normal and tumor gene expression states: a breast cancer case study. | Ai X et al. | β | 2025 | β |
| GeneHarmony: A Knowledge-Based Tool for Biomarker Discovery in Disease: SjΓΆgren's Disease vs. Rheumatoid Arthritis and Systemic Lupus Erythematosus. | Beckman MF et al. | β | 2025 | β |
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| Genetic analysis reveals the shared genetic architecture between breast cancer and atrial fibrillation. | Yang Y et al. | β | 2025 | β |
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| Genetic Architecture of Idiopathic Inflammatory Myopathies From Meta-Analyses. | Zhu C et al. | β | 2025 | β |
| Genetic Association of Mood Swings with Lung Function and Respiratory Diseases. | Ku Y et al. | β | 2025 | β |
| Genetic association of NEAT1 gene polymorphism with the progression of colorectal cancer. | Shiu BH et al. | β | 2025 | β |
| Genetic Comorbidity of Psoriasis and Four Cardiovascular Diseases: Uncovering Shared Mechanisms and Potential Therapeutic Targets. | Li X et al. | β | 2025 | β |
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| Genetic Exploration of Targeting the Transient Receptor Potential Cation Channel Subfamily Member 6. | Graesser C et al. | β | 2025 | β |
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| Global trends and risk factors in gastric cancer: a comprehensive analysis of the Global Burden of Disease Study 2021 and multi-omics data. | Zhang L et al. | β | 2025 | β |
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| Gut microbiota metabolites and key target molecules in allergic rhinitis: a multi-omics study of gut-nose axis regulation via the inflammation-metabolism network. | Zhang J et al. | β | 2025 | β |
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| Hedgehog Components Are Present in Polymorphous Adenocarcinoma of the Salivary Gland Regardless of PRKD1 Mutation and Tissue Invasion. | De Santana DA et al. | β | 2025 | β |
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| High mobility group protein 2 (HMGA2) is highly expressed in a broad range of benign and malignant tumors. | Chirico V et al. | β | 2025 | β |
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| Hippocampal SGK1 promotes vulnerability to depression: the role of early life adversity, stress, and genetic risk. | Millette A et al. | β | 2025 | β |
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| HLA-DOB: A Key "Coordinator" Between Cutaneous Melanoma and Psoriasis. | Li Y et al. | β | 2025 | β |
| HMGCS1 variants cause rigid spine syndrome amenable to mevalonic acid treatment in an animal model. | Dofash LNH et al. | β | 2025 | β |
| HNF1A and A1CF coordinate a beta cell transcription-splicing axis that is disrupted in type 2 diabetes. | Bernardo E et al. | β | 2025 | β |
| Homo Sapiens Chromosomal Location Ontology: A Framework for Genomic Data in Biomedical Knowledge Graphs. | Mohseni Ahooyi T et al. | β | 2025 | β |
| Host Genetic Variants Associated With Helicobacter pylori Infection: A Meta-Analysis Combined With Functional Annotation. | Zhao WJ et al. | β | 2025 | β |
| How accurate are machine learning models in predicting anti-seizure medication responses: A systematic review. | Abdaltawab A et al. | β | 2025 | β |
| Human BioMolecular Atlas Program (HuBMAP): 3D Human Reference Atlas construction and usage. | BΓΆrner K et al. | β | 2025 | β |
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| Human genetic variants in SLC39A8 impact uptake and steady-state metal levels within the cell. | Wang WA et al. | β | 2025 | β |
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| ICARus: a pipeline to extract robust gene expression signatures from transcriptome datasets. | Li Z et al. | β | 2025 | β |
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| Identification and validation of a KRAS-macrophage-associated gene signature as prognostic biomarkers and potential therapeutic targets in melanoma. | Cai B et al. | β | 2025 | β |
| Identification and validation of pyroptosis patterns in AML via comprehensive bioinformatics analysis. | Deng Z et al. | β | 2025 | β |
| Identification of candidate cardiomyopathy modifier genes through genome sequencing and RNA profiling. | Lindholm ME et al. | β | 2025 | β |
| Identification of candidate susceptibility genes for cutaneous malignant melanoma through integrated multi-method analysis. | Zhou P et al. | β | 2025 | β |
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| Identification of Endometriosis Pathophysiologic-Related Genes Based on Meta-Analysis and Bayesian Approach. | Kang J et al. | β | 2025 | β |
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| Identification of hub genes predicting sensitivity to neoadjuvant chemoradiation in locally advanced rectal cancer. | Zhao Q et al. | β | 2025 | β |
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| IMOP-Cancer: identifying mutation order pairs impacting cancer phenotypes. | Zhang Y et al. | β | 2025 | β |
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| Integrated multi-optosis model for pan-cancer candidate biomarker and therapy target discovery. | Rodrigues de Souza E et al. | β | 2025 | β |
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| Integration of cuproptosis-related gene signatures in stomach adenocarcinoma: implications for prognostic prediction and therapeutic strategies in cancer drug resistance. | Zuo X et al. | β | 2025 | β |
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| LncPepAtlas: a comprehensive resource for exploring the translational landscape of long non-coding RNAs. | Zhou X et al. | β | 2025 | β |
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| <italic>TXK</italic> Functional Variants Contribute to Asthma by Regulating Th1 and Th17 Cytokine Pathways. | Chew FT et al. | β | 2025 | β |
| LungGENIE: the lung gene-expression and network imputation engine. | Ghosh AJ et al. | β | 2025 | β |
| MAAT: a new nonparametric Bayesian framework for incorporating multiple functional annotations in transcriptome-wide association studies. | Wang H et al. | β | 2025 | β |
| Machine learning-based integration of DCE-MRI radiomics for STAT3 expression prediction and survival stratification in breast cancer. | Pan D et al. | β | 2025 | β |
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| MMP2 rs243865 and MMP8 rs11225395 Gene Polymorphisms Are Correlated With Breast Cancer Risk in Bangladeshi Women: Evidence From a Case-Control Study. | Datta A et al. | β | 2025 | β |
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| MT1JP: A Pivotal Tumor-Suppressing LncRNA and its Role in Cancer Progression and Therapeutic Potential. | He H et al. | β | 2025 | β |
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| NAA10 (N-Alpha-Acetyltransferase 10): A Multifunctional Regulator in Development, Disease, and Cancer. | Yang ZQ et al. | β | 2025 | β |
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| Omics Investigations of Prostate Cancer Cells Exposed to Simulated Microgravity Conditions. | Schulz H et al. | β | 2025 | β |
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| Orphan G Protein-Coupled Receptors: A Novel Research Frontier in Autism and Associated Disorders. | Gholamalizadeh H et al. | β | 2025 | β |
| Orthogonal screening for thyroid stimulating hormone receptor modulators in human thyroid assays. | Foley B et al. | β | 2025 | β |
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| PathoEye: A deep learning framework for the whole-slide image analysis of skin tissue. | Lin Y et al. | β | 2025 | β |
| Pathogenic Variants in <i>ATP1A3</i>: Why Is There So Much Confusion? | Sweadner KJ et al. | β | 2025 | β |
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| Phenotypic Analysis of Embryos in a Noonan Syndrome Model Mouse With the Rit1 A57G Mutation. | Suzuki D et al. | β | 2025 | β |
| Plasma Cell-Free DNA Chromatin Immunoprecipitation Profiling Depicts Phenotypic and Clinical Heterogeneity in Advanced Prostate Cancer. | Sipola J et al. | β | 2025 | β |
| Plasma proteomic characterization of motoric cognitive risk and mild cognitive impairment. | Gomez GT et al. | β | 2025 | β |
| Plasticity of Gene Expression in Spaceflight and Postflight in Relation to Cardiovascular Disease: Mechanisms and Candidate Repurposed Drugs. | Bourdakou MM et al. | β | 2025 | β |
| PlateletBase: A Comprehensive Knowledgebase for Platelet Research and Disease Insights. | Luo H et al. | β | 2025 | β |
| Playbook workflow builder: Interactive construction of bioinformatics workflows. | Clarke DJB et al. | β | 2025 | β |
| Polygraph: a software framework for the systematic assessment of synthetic regulatory DNA elements. | Lal A et al. | β | 2025 | β |
| Possible association between metabolic dysfunction-associated steatotic liver disease predictors and hand grip strength. | Lee S et al. | β | 2025 | β |
| Possible linking and treatment between Parkinson's disease and inflammatory bowel disease: a study of Mendelian randomization based on gut-brain axis. | Wang B et al. | β | 2025 | β |
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| Potential Influence of TNFSF15 Genetic Variants and Expression Levels on Disease Progression in Patients With Hepatocellular Carcinoma. | Hsueh KC et al. | β | 2025 | β |
| Potential shared neoantigens from pan-cancer transcript isoforms. | Techachakrit J et al. | β | 2025 | β |
| Precise metabolic dependencies of cancer through deep learning and validations. | Wu T et al. | β | 2025 | β |
| Preclinical characterization of novel multi-client inhibitors of Sec61 with broad antitumor activity. | Lowe E et al. | β | 2025 | β |
| Predicting GD2 expression across cancer types by the integration of pathway topology and transcriptome data. | Ustjanzew A et al. | β | 2025 | β |
| Predicting RNA-seq coverage from DNA sequence as a unifying model of gene regulation. | Linder J et al. | β | 2025 | β |
| Prognostic significance of CDK1 expression in diffuse large B-Cell lymphoma. | Chen Q et al. | β | 2025 | β |
| Prognostic value of natural killer T cell related genes in acute myeloid leukemia. | Liu Q et al. | β | 2025 | β |
| Protein Alterations in Patients with Delirium after Cardiac Surgery: An Exploratory Case-Control Substudy of the VISION Cardiac Surgery Biobank. | Spence J et al. | β | 2025 | β |
| Protein-coding mutation in Adcy3 increases adiposity and alters emotional behaviors sex-dependently in rats. | Fitzpatrick MK et al. | β | 2025 | β |
| Proteomic Profiling of the Large-Vessel Vasculitis Spectrum Identifying Shared Signatures of Innate Immune Activation and Stromal Remodeling. | Maughan RT et al. | β | 2025 | β |
| Proteomic signatures of smoking and their associations with risk of incident diseases and mortality in diverse populations. | Xiao S et al. | β | 2025 | β |
| PTGDS: As a Specific Biomarker for Septic Cardiomyopathy. | Leng L et al. | β | 2025 | β |
| PTGER4 Governs Immune Evasion and Therapy Resistance in Kidney Cancer via Ribosome Biogenesis Dysregulation. | Zhou H et al. | β | 2025 | β |
| PTOV1 interacts with ZNF449 to promote colorectal cancer development. | Wang Z et al. | β | 2025 | β |
| PTPN2 and Leukopenia in Individuals With Normal TPMT and NUDT15 Metabolizer Status Taking Azathioprine. | Daniel LL et al. | β | 2025 | β |
| RAB19, SERPINB9P1, and Pancreatitis in Patients Taking Azathioprine in Routine Clinical Practice: Genome and Transcriptome-Wide Association Studies. | Shah SC et al. | β | 2025 | β |
| Rare variant associations with birth weight identify genes involved in adipose tissue regulation, placental function and insulin-like growth factor signalling. | Kentistou KA et al. | β | 2025 | β |
| RBPWorld for exploring functions and disease associations of RNA-binding proteins across species. | Liao JY et al. | β | 2025 | β |
| REDInet: a temporal convolutional network-based classifier for A-to-I RNA editing detection harnessing million known events. | Fonzino A et al. | β | 2025 | β |
| Reduced HLA-I Transcript Levels and Increased Abundance of a CD56<sup>dim</sup> NK Cell Signature Are Associated with Improved Survival in Lower-Grade Gliomas. | Khan MAAK et al. | β | 2025 | β |
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| Replication of the GWAS-Identified GALNT13 rs10196189 Polymorphism in Relation to Speed-Power Elite Active Athlete Status and Multidimensional Phenotypic Differences in Chinese Han Males: A Pilot Study. | Chen L et al. | β | 2025 | β |
| Restoring Vascular Smooth Muscle Cell Mitochondrial Function Attenuates Abdominal Aortic Aneurysm in Mice. | Liu Y et al. | β | 2025 | β |
| Rethinking GWAS: how lessons from genetic screens and artificial intelligence could reveal biological mechanisms. | Hazelett DJ | β | 2025 | β |
| REVIVE: a computational platform for systematically identifying rejuvenating chemical and genetic perturbations. | Jung S et al. | β | 2025 | β |
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| Role of expression quantitative trait loci (eQTL) in understanding genetic mechanisms underlying common complex diseases. | Hong SE et al. | β | 2025 | β |
| ROS1 immunohistochemistry as a potential predictive biomarker for ROS1-targeted therapy in breast cancer: impact of antibody clone selection. | Sokolova A et al. | β | 2025 | β |
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| Saliva Protein Genes in Humans were Shaped During Primate Evolution. | Pajic P et al. | β | 2025 | β |
| SARS-CoV-2 infection drives local inflammation of the intestinal epithelium in immunocompromised patients with cancer. | Lou E et al. | β | 2025 | β |
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| Serum extracellular RNAs as a noninvasive approach to differentiate inflammatory bowel disease subtypes: a proof-of-concept study. | Verstockt S et al. | β | 2025 | β |
| Sex-Biased Admixture Followed by Isolation and Adaptive Evolution Shaped the Genomic and Blood Pressure Diversity of the LopNur People. | Wen J et al. | β | 2025 | β |
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| TargetPair: A Single Cell-omics Resource of Clinical Trials-derived Therapeutical Target Combinations for Cancer Therapy. | Zhou K et al. | β | 2025 | β |
| TCR-Based Therapy Directed against Kallikrein-Related Peptidase 4 Is Safe and Effective against Prostate Cancer. | van Amerongen RA et al. | β | 2025 | β |
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| Testing a Large Number of Composite Null Hypotheses Using Conditionally Symmetric Multidimensional Gaussian Mixtures in Genome-Wide Studies. | Sun R et al. | β | 2025 | β |
| Testosterone and Androgen Receptor in Cancers with Significant Sex Dimorphism in Incidence Rates and Survival. | Lin J et al. | β | 2025 | β |
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| The Emerging Landscape of LINC01123 in Cancer: Roles, Mechanisms, and Clinical Significance. | Yang J et al. | β | 2025 | β |
| The genetic landscape of pediatric postural orthostatic tachycardia syndrome. | Qu H et al. | β | 2025 | β |
| The genetic overlap between major depressive disorder, white blood cell counts and interleukin 6. | WistrΓΆm ED et al. | β | 2025 | β |
| The human and non-human primate developmental GTEx projects. | Coorens THH et al. | β | 2025 | β |
| The human genetic variant rs6190 unveils Foxc1 and Arid5a as novel prometabolic targets of the glucocorticoid receptor in muscle. | Prabakaran AD et al. | β | 2025 | β |
| The human glucocorticoid receptor variant rs6190 increases blood cholesterol and promotes atherosclerosis. | Durumutla HB et al. | β | 2025 | β |
| The immunopeptidomic landscape of ependymomas provides actionable antigens for T-cell-based immunotherapy. | MΓΌhlenbruch L et al. | β | 2025 | β |
| The implications of alternative splicing regulation for maximum lifespan. | Jiang W et al. | β | 2025 | β |
| The Influence of DNA Repair Genes and Prenatal Tobacco Exposure on Risk of Childhood Acute Lymphoblastic Leukemia: A Gene-Environment Interaction Study. | Wang X et al. | β | 2025 | β |
| The Multifaceted Roles of <i>CHROMR</i> in Innate Immunity, Cancer, and Cholesterol Homeostasis. | Blaustein ER et al. | β | 2025 | β |
| The nature of sex differences in catecholamine-induced lipolysis in subcutaneous fat cells. | Massier L et al. | β | 2025 | β |
| Therapeutic Potential of STE20-Type Kinase STK25 Inhibition for the Prevention and Treatment of Metabolically Induced Hepatocellular Carcinoma. | Xia Y et al. | β | 2025 | β |
| Therapeutic target prediction for orphan diseases integrating genome-wide and transcriptome-wide association studies. | Namba S et al. | β | 2025 | β |
| The relationship between vitamin D levels and depression: a genetically informed study. | Lyu H et al. | β | 2025 | β |
| The retrotransposon-derived capsid genes PNMA1 and PNMA4 maintain reproductive capacity. | Wood TWP et al. | β | 2025 | β |
| The shared genetic etiology of autoimmune disorders and interstitial lung disease: insights from large-scale genome-wide cross-trait analysis. | Zhou F et al. | β | 2025 | β |
| The topography of nullomer-emerging mutations and their relevance to human disease. | Chan CSY et al. | β | 2025 | β |
| The Use of Biomarkers in Precision Health Symptom Science-Opportunities and Challenges. | Harris CS et al. | β | 2025 | β |
| The X-Linked Tumor Suppressor TSPX Regulates Genes Involved in the EGFR Signaling Pathway and Cell Viability to Suppress Lung Adenocarcinoma. | Kido T et al. | β | 2025 | β |
| Thiosulphate sulfurtransferase: Biological roles and therapeutic potential. | Luo Y et al. | β | 2025 | β |
| Thymic epithelial cells amplify epigenetic noise to promote immune tolerance. | Gamble N et al. | β | 2025 | β |
| TILDA-X: Transcriptome-Informed Lung Cancer Disparities via Explainable AI. | Sobhan M et al. | β | 2025 | β |
| Tissue-specific co-expression patterns of BAF complex genes across human endocrine and non-endocrine tissues. | Dong X et al. | β | 2025 | β |
| Tissue-specific isoform usage and gene expression revealed through RNA-seq and ATAC-seq in developing cattle. | Khilji SF et al. | β | 2025 | β |
| TMEM65-dependent Ca2+ extrusion safeguards mitochondrial homeostasis. | Vetralla M et al. | β | 2025 | β |
| Topic modeling analysis of the Allen Human Brain Atlas. | Pizzini L et al. | β | 2025 | β |
| Tracing the Genetic Heritage of the Kirgiz People: Dual-Wave Admixture and Ancestry-Biased Adaptation. | Chen S et al. | β | 2025 | β |
| Tracing the tissue origin of cell-free DNA through open chromatin footprint. | Li L et al. | β | 2025 | β |
| Trans-ancestry transcriptome-wide association and functional studies to uncover novel susceptibility genes and therapeutic targets for colorectal cancer. | Wang L et al. | β | 2025 | β |
| Transcription start sites experience a high influx of heritable variants fueled by early development. | CortΓ©s GuzmΓ‘n M et al. | β | 2025 | β |
| TRanscriptome ANalysis of StratifiEd CohorTs (TRANSECT) enables automated assessment of global gene regulation linked to disparate expression in user defined genes and gene sets. | Toubia J et al. | β | 2025 | β |
| Transcriptomes of thirteen healthy feline tissue types. | Hayward JJ et al. | β | 2025 | β |
| Transcriptome-wide association study identifies genes associated with bladder cancer risk. | Li S et al. | β | 2025 | β |
| Transcriptome-wide Mendelian randomization exploring dynamic CD4+ T cell gene expression in colorectal cancer development. | Deslandes B et al. | β | 2025 | β |
| Transcriptomic characterization of postnatal muscle maturation. | Simon A et al. | β | 2025 | β |
| Transcriptomic profiling of immune modulation induced by vitamin D<sub>3</sub> in the VitDPAS and VitDHiD cohort studies. | Gospodarska E et al. | β | 2025 | β |
| Transcriptomic Profiling of Long COVID-19 in Patients with Interstitial Lung Disease Reveals Dysregulation of Mitochondrial Oxidative Phosphorylation. | Aracena KA et al. | β | 2025 | β |
| Transcriptomic profiling of shed cells enables spatial mapping of cellular turnover in human organs. | Barkai T et al. | β | 2025 | β |
| TransferTWAS: A transfer learning framework for cross-tissue transcriptome-wide association study. | Lai D et al. | β | 2025 | β |
| Transforming neurodegenerative disorder care with machine learning: Strategies and applications. | Galal A et al. | β | 2025 | β |
| Transient mRNA CAR T cells targeting GD2 provide dose-adjusted efficacy against diffuse midline glioma and high-grade glioma models. | Foster JB et al. | β | 2025 | β |
| TRAPT: a multi-stage fused deep learning framework for predicting transcriptional regulators based on large-scale epigenomic data. | Zhang G et al. | β | 2025 | β |
| TRIM31 triggers colorectal carcinogenesis and progression by maintaining YBX1 protein stability through ubiquitination modification. | Li X et al. | β | 2025 | β |
| tRNA modifications tune m<sup>6</sup>A-dependent mRNA decay. | Linder B et al. | β | 2025 | β |
| TTC7B triggers the PI4KA-AKT1-RXRA-FTO axis and inhibits colon cancer cell proliferation by increasing RNA methylation. | Ren Q et al. | β | 2025 | β |
| TumorXDB: an integrated multi-omics xWAS/xQTL platform for cross-ethnic pan-cancer analysis. | Dong Z et al. | β | 2025 | β |
| Twelve-hour ultradian rhythmic reprogramming of gene expression in the human ovary during aging. | Chen L et al. | β | 2025 | β |
| Ubiquitin E3 ligase KPC1 governs mesenchymal metastatic melanoma reprogramming via proteasomal degradation of ZEB1. | Nakano Y et al. | β | 2025 | β |
| Uncovering covariance patterns across energy balance traits enables the discovery of new obesity-related genes. | Gulisija D et al. | β | 2025 | β |
| Uncovering the complexity of structural variants in four individuals with autism spectrum disorder. | Dada S et al. | β | 2025 | β |
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| Unraveling calcium dysregulation and autoimmunity in immune mediated rippling muscle disease. | Nath SR et al. | β | 2025 | β |
| Unraveling the genetic blueprint of doxorubicin-induced cardiotoxicity through systems genetics approaches. | Orgil BO et al. | β | 2025 | β |
| Unraveling the interconnectedness: A network-based study of type 2 diabetes and its comorbidities. | John TA et al. | β | 2025 | β |
| Unraveling the Pivotal Role of LncRNA DUXAP9 in Cancer: Current Progress and Future Perspectives. | Yang J et al. | β | 2025 | β |
| Unraveling the shared genetic foundations of neurodevelopmental and psychiatric disorders: Insights from comprehensive genome-wide analyses. | Maimaiti A et al. | β | 2025 | β |
| Unravelling TPX2-centered co-expression networks as key drivers of aggressive prostate cancer. | Sheibani-Tezerji R et al. | β | 2025 | β |
| Unveiling genetic and biological links: exploring the intersection of autoimmune and psychiatric disorders. | Liwayiding A et al. | β | 2025 | β |
| Unveiling the Genetic Landscape of Coronary Artery Disease Through Common and Rare Structural Variants. | Iyer KR et al. | β | 2025 | β |
| Unveiling the genetic pleiotropy between anxiety disorders and autoimmune diseases: insights from large-scale genome-wide cross-trait analysis. | Lin H et al. | β | 2025 | β |
| Unveiling the impact of OVOL1 on prognosis, immune microenvironment, and proliferation in pancreatic cancer. | Li J et al. | β | 2025 | β |
| Unveiling the multifaceted roles of long non-coding RNA CTBP1-DT in human diseases: Special attention to its microprotein-encoding potential. | Yang J | β | 2025 | β |
| Unveiling the prognostic and immunological role of IFI44 in glioma. | Jin D et al. | β | 2025 | β |
| Urolithin A provides cardioprotection and mitochondrial quality enhancement preclinically and improves human cardiovascular health biomarkers. | Liu S et al. | β | 2025 | β |
| Using multiomic integration to improve blood biomarkers of major depressive disorder: a case-control study. | Mokhtari A et al. | β | 2025 | β |
| Using novel approaches to conjugate peptides of Macrotermes bellicosus and Curcuma longa for targeted intervention of irritable bowl diseases caused by tumor necrosis factor superfamily member 15 (TNFSF15). | Naveed M et al. | β | 2025 | β |
| Using single-cell perturbation screens to decode the regulatory architecture of splicing factor programs. | Anglada-Girotto M et al. | β | 2025 | β |
| USP2 inhibition unleashes CD47-restrained phagocytosis and enhances anti-tumor immunity. | Dai P et al. | β | 2025 | β |
| Utilising multi-modal data-driven network analysis to identify monotherapy and combinational therapy targets in SOX2-dependent squamous cell lung cancer. | Hwang W et al. | β | 2025 | β |
| UVREK: Development and Analysis of an Expression Profile Knowledgebase of Biomolecules Induced by Ultraviolet Radiation Exposure. | Baskaran SP et al. | β | 2025 | β |
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| Variants in BSN, encoding the presynaptic protein Bassoon, result in a distinct neurodevelopmental disorder with a broad phenotypic range. | Guzman SG et al. | β | 2025 | β |
| Vitamin B12 as an epidrug for regulating peripheral blood biomarkers in long COVID-associated visuoconstructive deficit. | Cassiano LMG et al. | β | 2025 | β |
| Whole-exome sequencing and burden analysis identify six novel candidate risk genes and expand the genetic landscape of Parkinson's disease. | Fan Y et al. | β | 2025 | β |
| Whole-Exome Sequencing-Based Linkage Analysis of Multiple Myeloma (MM) and Monoclonal Gammopathy of Undetermined Significance (MGUS) Pedigrees. | Clay-Gilmour AI et al. | β | 2025 | β |
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| Whole-genome sequencing reveals the impact of lipid pathway and APOE genotype on brain amyloidosis. | Patel M et al. | β | 2025 | β |
| Whole-Genome Structural Variations Study in a Severe Acne Family. | Feng J et al. | β | 2025 | β |
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| A phenome-wide association study of tandem repeat variation in 168,554 individuals from the UK Biobank. | Manigbas CA et al. | β | 2024 | β |
| Association between 25(OH) vitamin D and schizophrenia: shared genetic correlation, pleiotropy, and causality. | Rong GW et al. | β | 2024 | β |
| Association of Polymorphism in Locus of rs274503 (<i>ZBED5</i>/<i>GALNT18</i>) with the Risk of Idiopathic Clubfoot in Chinese Children: An 11-Center Case-Control Study. | Li J et al. | β | 2024 | β |
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| Carcinoembryonic Antigen Expression in Human Tumors: A Tissue Microarray Study on 13,725 Tumors. | Jansen K et al. | β | 2024 | β |
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| Charting the transcriptomic landscape of primary and metastatic cancers in relation to their origin and target normal tissues. | Sanghvi N et al. | β | 2024 | β |
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| Elucidation of Factors Affecting the Age-Dependent Cancer Occurrence Rates. | Xiao J et al. | β | 2024 | β |
| Epigenetic aging of semen is associated with inflammation. | Feng J et al. | β | 2024 | β |
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| Evaluation of Spliceosome Protein SmD2 as a Potential Target for Cancer Therapy. | Li J et al. | β | 2024 | β |
| Evolutionarily Developed Alternatively Spliced Exons Containing Translation Initiation Sites. | Takeda JI et al. | β | 2024 | β |
| Genetic variants associated with sepsis-associated acute kidney injury. | Douville NJ et al. | β | 2024 | β |
| Genetic variation in circadian regulator gene <i>BMAL1</i> in psychiatric, psychological and cardiometabolic traits: a trans-ancestry UK Biobank study. | Daudali H et al. | β | 2024 | β |
| Genome-Wide European Ancestry Study Identifies Coronary Artery Disease-Associated Loci Through Gene-Sex Hormone Interaction. | Jain V et al. | β | 2024 | β |
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| How to build the virtual cell with artificial intelligence: Priorities and opportunities. | Bunne C et al. | β | 2024 | β |
| Increased spatial coupling of integrin and collagen IV in the immunoresistant clear-cell renal-cell carcinoma tumor microenvironment. | Soupir AC et al. | β | 2024 | β |
| Integrating machine learning, bioinformatics and experimental verification to identify a novel prognostic marker associated with tumor immune microenvironment in head and neck squamous carcinoma. | Zeng X et al. | β | 2024 | β |
| Interpreting Lung Cancer Health Disparity between African American Males and European American Males. | Sobhan M et al. | β | 2024 | β |
| Localization is the key to action: regulatory peculiarities of lncRNAs. | Poloni JF et al. | β | 2024 | β |
| Machine learning models reveal microbial signatures in healthy human tissues, challenging the sterility of human organs. | Skoulakis A et al. | β | 2024 | β |
| MARK2/MARK3 Kinases Are Catalytic Codependencies of YAP/TAZ in Human Cancer. | Klingbeil O et al. | β | 2024 | β |
| Multiome-wide Association Studies: Novel Approaches for Understanding Diseases. | Shao M et al. | β | 2024 | β |
| Phenome-wide association studies between <i>SERINC2</i> and neuropsychiatric disorders. | Liu P et al. | β | 2024 | β |
| Phenotype prediction in plants is improved by integrating large-scale transcriptomic datasets. | Wu Z et al. | β | 2024 | β |
| Plasma NOTCH3 and the risk of cardiovascular recurrence in patients with ischemic stroke. | Seet RCS et al. | β | 2024 | β |
| Prevalence and clinical significance of Claudin-3 expression in cancer: a tissue microarray study on 14,966 tumor samples. | BΓΌyΓΌcek S et al. | β | 2024 | β |
| Radioresistance-related gene signatures identified by transcriptomics characterize the prognosis and immune landscape of pancreatic cancer patients. | Wang D et al. | β | 2024 | β |
| Regulation of human interferon signaling by transposon exonization. | Pasquesi GIM et al. | β | 2024 | β |
| SILAC-based quantification reveals modulation of the immunopeptidome in BRAF and MEK inhibitor sensitive and resistant melanoma cells. | Bernhardt M et al. | β | 2024 | β |
| Single-cell multi-omics analysis reveals candidate therapeutic drugs and key transcription factor specifically for the mesenchymal subtype of glioblastoma. | Yang Y et al. | β | 2024 | β |
| Systematic druggable genome-wide Mendelian randomization identifies therapeutic targets for hyperemesis gravidarum. | Wang F et al. | β | 2024 | β |
| The diabetic myocardial transcriptome reveals Erbb3 and Hspa2 as a novel biomarkers of incident heart failure. | Conning-Rowland MS et al. | β | 2024 | β |
| VIBE: an R-package for VIsualization of Bulk RNA Expression data for therapeutic targeting and disease stratification. | Khatri I et al. | β | 2024 | β |