The Genotype-Tissue Expression (GTEx) project

Lonsdale, John, Thomas, Jeffrey, Salvatore, Mike, Phillips, Rebecca, Lo, Edmund, Shad, Saboor, Hasz, Richard, Walters, Gary +119 more·2013·Nature Genetics

DOI 10.1038/ng.2653

Cited by (488)

Items 401–488 of 488

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Computational Characterization of Undifferentially Expressed Genes with Altered Transcription Regulation in Lung Cancer
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Modulation of the Mas-Related G Protein-Coupled Receptor X2 (MRGPRX2) by Xenobiotic Compounds and Its Relevance to Human Diseases
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scGraph2Vec: a deep generative model for gene embedding augmented by graph neural network and single-cell omics data
Lin, Shiqi, Jia, Peilin · 2024 · GigaScience
KLF14 and SREBF-1 Binding Site Associations with Orphan Receptor Promoters in Metabolic Syndrome
Julio Jesús Garcia-Coste, Santiago Villafaña, Karla Aidee Aguayo-Cerón, Cruz Vargas‐De‐León, Rodrigo Romero‐Nava · 2025 · International Journal of Molecular Sciences
Achieving inclusive healthcare through integrating education and research with AI and personalized curricula
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RETRACTED: Identify Biomarkers and Design Effective Multi-Target Drugs in Ovarian Cancer: Hit Network-Target Sets Model Optimizing
Amir Abbas Esmaeilzadeh, Mahdis Kashian, Hayder Mahmood Salman, Marwa Fadhil Alsaffar, Mustafa Musa Jaber, Siamak Soltani, Ahmet İlhan, Abolfazl Bahrami · 2022 · Biology · Retracted
Family‐based genetic analysis in schizophrenia by whole‐exome sequence to identify rare pathogenic variants
Binli Shang, Runxu Yang, Kun Lian, Lei Dong, Hongbing Liu, Tianlan Wang, Guangya Yang, Xi Kang, Xiufeng Xu, Yuqi Cheng · 2024 · American Journal of Medical Genetics Part B Neuropsychiatric Genetics
Association of the rs1966265 and rs351855 FGFR4 Variants with Colorectal Cancer in a Mexican Population and Their Analysis In Silico
Irving Alejandro Carrillo-Dávila, Asbiel Felipe Garibaldi-Ríos, Luis Eduardo Figuera, Belinda Claudia Gómez‐Meda, Guillermo Moisés Zúñiga‐González, Ana María Puebla‐Pérez, Patricia Montserrat García-Verdín, Paola Beatriz Castro-García, Itzae Adonaí Gutiérrez-Hurtado, Blanca Miriam Torres-Mendoza et al. · 2024 · Biomedicines
EXO1's pan-cancer roles: diagnostic, prognostic, and immunological analyses through bioinformatics
Zheng Liu, Shu Huang, Rui Luo · 2025 · Discover Oncology
Cholangiocarcinoma-derived secreted products and growth arrest-specific 2-like 3 enhance migratory and invasive abilities of fibroblasts
Natnicha Paungpan, Kulthida Vaeteewoottacharn, Paweena Dana, Saowaluk Saisomboon, Sittiruk Roytrakul, Wiphawi Hipkaeo, Yada Polsan, Kanlayanee Sawanyawisuth, Sukanya Luang, Worachart Lert-itthiporn et al. · 2025 · European Journal of Cell Biology
Association of PHACTR1 intronic variants with the first myocardial infarction and their effect on PHACTR1 mRNA expression in PBMCs
Jovana Kuveljić, Tamara Djurić, Goran R. Stankovic, Milica Dekleva, Aleksandra Stanković, Dragan Alavantić, Maja Živković · 2021 · Gene
High Grade of Amplification of Six Regions on Chromosome 2p in a Neuroblastoma Patient with Very Poor Outcome: The Putative New Oncogene TSSC1
Marzia Ognibene, Loredana Amoroso, Fraia Melchionda · 2021 · Cancers
Clin.iobio: A Collaborative Diagnostic Workflow to Enable Team-Based Precision Genomics
Alistair N. Ward, Matt Velinder, Tonya Di Sera, Aditya Ekawade, Sabrina Malone Jenkins, Barry Moore, Rong Mao, Pınar Bayrak‐Toydemir, Gábor Marth · 2022 · Journal of Personalized Medicine
Pan-Cancer Analysis Reveals the Prognostic Potential of the THAP9/THAP9-AS1 Sense–Antisense Gene Pair in Human Cancers
Richa Rashmi, Sharmistha Majumdar · 2022 · Non-Coding RNA
Genome-Wide Association Study Identifies Genetic Polymorphisms Associated with Estimated Minimum Effective Concentration of Fentanyl in Patients Undergoing Laparoscopic-Assisted Colectomy
Daisuke Nishizawa, Tsutomu Mieda, Miki Tsujita, Hideyuki Nakagawa, Shigeki Yamaguchi, Shinya Kasai, Junko Hasegawa, Kyoko Nakayama, Yuko Ebata, Akira Kitamura et al. · 2023 · International Journal of Molecular Sciences
Variants Tagging LGALS-3 Haplotype Block in Association with First Myocardial Infarction and Plasma Galectin-3 Six Months after the Acute Event
Ana Djordjević, Maja Živković, Maja Bošković · 2022 · Genes
Lack of association of CD44-rs353630 and CHI3L2-rs684559 with pancreatic ductal adenocarcinoma survival
Manuel Gentiluomo, Chiara Corradi, Giuseppe Vanella et al. · 2021 · Scientific Reports
Analysis of Whole Genome Sequencing in a Cohort of Individuals with PHACE Syndrome Suggests Dysregulation of RAS/PI3K Signaling
Elizabeth S. Partan, Francine Blei, Sarah L. Chamlin, Olivia M. T. Davies, Beth A. Drolet, Ilona J. Frieden, Ioannis Karakikes, Chien‐Wei Lin, Anthony J. Mancini, Denise Walker Metry et al. · 2021 · medRxiv
Predicting cell type-specific coverage profiles from DNA sequence
Johannes Linder, Han Yuan, David R. Kelley · 2025 · bioRxiv (Cold Spring Harbor Laboratory)
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
Lun Chen, Mingrui Wang, L. Liu, Xiaoyu Jiang, Zihang Cao, Samuhaer Azhati, Hangyu Chen, Kaixin She, Jinyao Zhu, Ming Chen et al. · 2025 · Genes
A Pilot Study of Blood-Based Methylation Markers Associated With Pancreatic Cancer
Rick J. Jansen, Megan Orr, William R. Bamlet, Gloria M. Petersen · 2022 · Frontiers in Genetics
Molecular Modelling Hurdle in the Next-Generation Sequencing Era
Guerau Fernández, Dèlia Yubero, Francesc Palau, Judith Armstrong · 2022 · International Journal of Molecular Sciences
Investigation of the function of the novel tumor marker BEND5 in lung adenocarcinoma based on data mining and in vitro analysis
Yuting Ma, Liyang Wu · 2023 · Journal of Thoracic Disease
The rs2601796 variant in ADCY9 gene is associated with severe asthma and less bronchodilator response
Helena Mariana Pitangueira Teixeira, Álvaro Augusto Cruz, Talita dos Santos de Jesus et al. · 2023 · Gene
The effect of CYP2R1 polymorphism (rs10741657) on serum lipid traits in a Han septic population: A case-control study
Lin Zhao, Jun Zhou, Siting Wang, Yipan Fan, Xiang Li, Ning Zhang · 2024 · Medicine
Debiased inverse propensity score weighting for estimation of average treatment effects with high-dimensional confounders
Yuhao Wang, Rajen D. Shah · 2024 · The Annals of Statistics
Integrative Analysis of the Role of MRPL21 in Human Pan-Cancer and Its Relationship with the Progression of Lung Adenocarcinoma
Qi Xu, Jiale Wang, Jing Wang · 2025 · Molecular Biotechnology
Missing Regulation Between Genetic Association and Transcriptional Abundance for Hypercholesterolemia Genes
Aaron Hakim, Noah J Connally, Gavin R. Schnitzler, Michael Cho, Zhenghui Gordon Jiang, Shamil R. Sunyaev, Rajat M. Gupta · 2025 · Genes
A cross-tissue transcriptome-wide association study identifies new susceptibility genes for benign prostatic hyperplasia
Li Wang, Siyu Chen, Jian-wei Yang · 2025 · Scientific Reports
Assessment of CYP2D6 gene expression in liver tissue: Variability in CYP2D6 mRNA levels within genotype-predicted metabolizer phenotype groups
Erika L. Meaddough, Sara M. Sarasua, Deborah Kunkel, Luigi Boccuto, Satishkumar Ranganathan Ganakammal, Matthew Moersen, Christopher L. Farrell · 2025 · Chemico-Biological Interactions
Effects of ageing and exercise training on cerebrovascular vasomotor reactivity, depressive behaviour and the hippocampal transcriptome
Britton Scheuermann, Kathryn E. Nichol, Cathy W. Levenson, Kiana Marie Schulze, Cynthia Vied, Christopher R. Woodman, Rhonda D. Prisby, Rafael Reyes, Kirk W. Evanson, Lih Kuo et al. · 2025 · The Journal of Physiology
The Search for Cancer Biomarkers: Assessing the Distribution of INDEL Markers in Different Genetic Ancestries
Roberta Borges Andrade, Giovanna C. Cavalcante, Marcos Antônio Trindade Amador · 2022 · Current Issues in Molecular Biology
Evaluation of previous substance dependence genome-wide significant findings in a Spanish sample
Laura Pineda-Cirera, Judit Cabana‐Domínguez, Carlos Roncero, Mónica Cozar, Lara Grau‐López, Alfonso Carlos Abad, Nieves Martínez‐Luna, María Robles-Martínez, Cristina Sánchez‐Mora, Josep Antoni Ramos‐Quiroga et al. · 2018 · Drug and Alcohol Dependence
An Automated Functional Annotation Pipeline That Rapidly Prioritizes Clinically Relevant Genes for Autism Spectrum Disorder
Olivia J. Veatch, Merlin G. Butler, Sarah H. Elsea, Beth Ann Malow, James S. Sutcliffe, Jason H. Moore · 2020 · International Journal of Molecular Sciences
Comprehensive analysis of alternative polyadenylation regulators of CTLA4 and immune infiltration in clear cell renal cell carcinoma
Menghao Zhou, Wulin Long, Ming Xiong · 2023 · Translational Andrology and Urology
A bootstrap model comparison test for identifying genes with context-specific patterns of genetic regulation
Mykhaylo M. Malakhov, Ben Dai, Xiaotong Shen, Wei Pan · 2024 · The Annals of Applied Statistics
Safetyome and specialized panels for over 3,000 phenotypes: a systematic and translational approach using human genetics and pharmacology
Liu, Xin, Chen, Yen-Wei, Xu, Xiao, Smith, David, Fan, Fan · 2026 · Toxicological Sciences
Protective PLCG2 variants associate with a delayed onset of Alzheimer’s disease among heterozygous APOE ε4 carriers
Jeskanen, Heli, Heikkinen, Sami, Kervinen, Inka, Lehtisalo, Jenni, Ngandu, Tiia, Willman, Roosa-Maria, Rosa, Jessica, Hoffmann, Dorit, FinnGen, Leinonen, Ville et al. · 2026 · Alzheimer's Research & Therapy
Common Variation in the PIN1 Locus Increases the Genetic Risk to Suffer from Sertoli Cell-Only Syndrome
Miriam Cerván‐Martín, Lara Bossini‐Castillo, Andrea Guzmán‐Jiménez et al. · 2022 · Journal of Personalized Medicine
Prognostic characterization of the pyroptosis-related subtypes and tumor microenvironment infiltration in glioma
Jiarong He, Jiaoying Jia, Jiawei Lei · 2023 · Cancer Biomarkers
Domain‐specific phenotypes in LINS1 ‐related disorder—A Chinese family with the Q92X variant and literature review
Xuying Li, Zhanjun Wang, Yanping Yang, Ruichai Lin, Chaodong Wang · 2024 · American Journal of Medical Genetics Part C Seminars in Medical Genetics
A Novel SLPI Splice Variant Confers Susceptibility to Otitis Media in Humans
Christina L. Elling, Allen Frederic Ryan, Talitha Karisse L. Yarza, Amama Ghaffar, Erasmo Gonzalo D.V. Llanes, Jennifer M. Kofonow, Maria Rina T. Reyes‐Quintos, Saima Riazuddin, Charles E. Robertson, Ma. Leah C. Tantoco et al. · 2025 · International Journal of Molecular Sciences
Novel Truncating Variants in PODXL Represent a New Entity to Be Explored Among Podocytopathies
José María García-Aznar, María Lara Besada-Cerecedo, Cristina Castro-Alonso, Milagros Sierra Carpio, Miquel Blasco, Borja Quiroga, Michal Červienka, Ricardo Mouzo, Roser Torrá, Alberto Ortíz et al. · 2025 · Genes
Association of Functional Gene Variants in DYSF–ZNF638, MTSS1 and Ferroptosis-Related Genes with Multiple Sclerosis Severity and Target Gene Expression
Tamara Djurić, Ana Djordjević, Jovana Kuveljić, Milan Stefanović, Evica Dinčić, Ana Kolaković, Maja Živković · 2025 · International Journal of Molecular Sciences
Leveraging a Surrogate Outcome to Improve Inference on a Partially Missing Target Outcome
Zachary Ryan McCaw, Sheila M. Gaynor, Ryan Sun, Xihong Lin · 2022 · Biometrics
Exploring the Genotype–Phenotype Correlations in a Child with Inherited Seizure and Thrombocytopenia by Digenic Network Analysis
Shuanglong Lu, Zhixiao Niu, Xiaohong Qiao · 2024 · Genes
Genetic Variants Associated with Sensitive Skin: A Genome-Wide Association Study in Korean Women
Seoyoung Kim, Kyung‐Won Hong, Mihyun Oh · 2024 · Life
Controls for the molecular data: Normalization, harmonization, and quality thresholds
Nicolas M. Borisov · 2024 · Elsevier eBooks
Expression pattern of glutaminase informs the dynamics of glutamine metabolism
Dingxue Hu, Wanqiu Wang, Xin Zhao, Yunyun An, Xiaoyi Liu, Mengqi Yang, Yuqi Pan, Huizhen Lin, Fanglei Gong, Bianbian Tang et al. · 2025 · The Innovation Life
A Genome-Wide Association Study of Circulating Serum Choline, Betaine, Dimethylglycine, and Their Ratios
Lauren E. Louck, Kevin C. Klatt, Taylor C. Wallace · 2025 · Nutrients
Genome-wide association studies
Thomas W. Mühleisen, Sven Cichon · 2019
Fast, Ungapped Reads Mapping Using Squid
Christopher Riccardi, Gabriel Innocenti, Marco Fondi · 2022 · International Journal of Environmental Research and Public Health
Identifying pathways and networks associated with the SARS-CoV-2 cell receptor ACE2 based on gene expression profiles in human tissues
Qiushi Feng, Li Lin, Xiaosheng Wang · 2020
NSUN6, a Gene Related With m5c Methylation, May Serve as a Biomarker for Pan-cancer
Baishun Ma, Pu Wang · 2022 · Research Square
IL-6R Protective Variant rs7529229 Reduces Interleukin-6 Signaling and Contributes To A Decreased Ischemic Stroke Risk
Haihua Zhang, Wen-Bo Zhao, Bian Liu, Tao Wang, Zhi-Fa Han, Xun-Ming Ji, Guiyou Liu · 2020
Frequent POLE-Driven Hypermutation in Ovarian Endometrioid Cancer Revealed by Mutational Signatures in RNA Sequencing
Jaime I Davila, Pritha Chanana, Vivekananda Sarangi · 2021 · Research Square
Validation of lipid-related therapeutic targets for coronary heart disease prevention using human genetics
María Gordillo‐Marañón, Magdalena Zwierzyna, Pimphen Charoen, Fotios Drenos, Sandesh Chopade, Tina Shah, Jorgen Engmann, Juan Pablo Casas, Nish Chaturvedi, Olia Papacosta et al. · 2021 · Research Square
Wnt Pathway-Related Three-mRNA Clinical Outcome Signature In Bladder Urothelial Carcinoma: Computational Biology And Experimental Analyses
Siqing Sun, Yutao Wang, Jianfeng Wang · 2021 · Research Square
Deciphering the Genetic and Environmental Nexus of Air Pollution, Personality Traits, and Psychiatric Disorders: A Multi-Faceted Genomic Analysis
Yu Feng, Ningning Jia, Chenxu Xiao, Jing Shen · 2024 · Research Square
GLRB variants regulate nearby gene expression in human brain tissues
Qingjian Wu, Mingfeng Yang, Pi‐da Hao, Chengjun Yan, Chunjing Du, Jianhua Li, Ya‐Jun Hou, Bao‐liang Sun, Shuyin Sun · 2017 · Scientific Reports
Identifying the genetic basis and molecular mechanisms underlying phenotypic correlation between complex human traits using a gene-based approach
Jiashun Zheng, Jialiang Gu, Chris Fuller, Hao Li · 2020 · Research Square
IL-6R Protective Variant rs7529229 Reduces Interleukin-6 Signaling and Contributes To A Decreased Ischemic Stroke Risk
Haihua Zhang, Wenbo Zhao, Bian Liu, Tao Wang, Zhifa Han, Xunming Ji, Guiyou Liu · 2020
Pathogen-Selected Polymorphisms in the PKLR Gene Are Associated with Mycobacterial Susceptibility in Brazilian and African Populations
Ohanna Cavalcanti de Lima Bezerra, Lucia Elena Alvarado-Arnez, Nédio Jonas Mabunda, Graça Salomé, Amina de Sousa, Fernanda S. G. Kehdy, Carolinne de Sales Marques, Fernanda Saloum de Neves Manta, Rafaela Mota Andrade, Laís Pereira Ferreira et al. · 2020 · PLoS neglected tropical diseases
FOXF2-Mediated lncRNA LINC02532 Promotes Gastric Cancer Cell Migration and Invasion By Decreasing SOX7 mRNA Stability
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CENPF Upregulation is Associated with Immunosuppressive Status and Predicts Poor Clinical Outcomes in Lung Adenocarcinoma Validated by Qrt- PCR
Zhiyun Xu, Shi Wang, Zhijian Ren · 2021 · Research Square
Organelle resolved proteomics reveals new chordoma cell surface markers required for proliferation and association with outcome
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Faculty Opinions recommendation of Deep learning sequence-based ab initio prediction of variant effects on expression and disease risk.
Chao Cheng · 2019 · Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature
NOMA-DB: A Framework for Management and Analysis of Ageing-related Gene-Expression Data
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Disentangling genetic risks for metabolic syndrome
Eva S. van Walree, Iris E. Jansen, Nathaniel Y. Bell, Jeanne E. Savage, Christiaan de Leeuw, Max Nieuwdorp, Sophie van der Sluis, Danielle Posthuma B · 2022
Enabling analysis of transcriptomic data related to Ageing Processes through the GTEx-Visualizer web portal
Pietro Hiram Guzzi, Ugo Lomoio, Pierangelo Veltri · 2022 · Research Square
Analysis of age-dependent gene-expression in human tissues for diabetes comorbidities.
Pietro Hiram Guzzi, Francesca Cortese, Gaia Chiara Mannino, Elisabetta Pedace, Elena Succurro, Francesco Andreozzi, Pierangelo Veltri · 2023 · Research Square
A novel risk variant block across introns 36–45 of CACNA1C for schizophrenia: a cohort-wise replication and cerebral region-wide validation study
Xiaoyun Guo, Shibin Wang, Xiandong Lin, Zuxing Wang, Yikai Dou, Yuping Cao, Yong Zhang, Xinqun Luo, Longli Kang, Ting Yue Yu et al. · 2023 · Psychiatric Genetics
Compressed spectral screening for large-scale differential correlation analysis with application in selecting Glioblastoma gene modules
Tianxi Li, Xiwei Tang, Ajay Chatrath · 2023 · The Annals of Applied Statistics
Obtenção de novos potenciais biomarcadores para o câncer de mama com o auxílio da inteligência artificial explicável
Luísa Souza, Karolayne S. de Azevedo, Matheus Dalmolin, Marcelo A. C. Fernandes · 2023 · Congresso Brasileiro de Inteligência Computacional (CBIC)
StarTrek: Combinatorial variable selection with false discovery rate control
Lu Zhang, Junwei Lu · 2024 · The Annals of Statistics
The Role of rs2238296 of the Mitochondrial DNA Polymerase Gamma Gene in Combination with Polymorphic Variants of Antioxidant Defense Genes in the Development of Postinfarction Left Ventricular Aneurysm
Кужелева Елена Андреевна, Гарганеева Алла Анатольевна, Olga V. Tukish · 2023 · Генетика
Construction and analysis of the CDKN2B-AS1 ceRNA network associated with KRAS-dependent tumorigenesis in colorectal and pancreatic cancer
Mahsa Saliani, Ali Javadmanesh, Parisa Gonbadi · 2024 · Research Square
A genome-wide association study of high-sensitivity C-reactive protein in a large Korean population highlights its role in cholesterol metabolism
Kwangyeon Oh, Minju Yuk, Soyoun Yang, Jiyeong Youn, Qian Dong, Zhaoming Wang, Nan Song · 2024 · bioRxiv (Cold Spring Harbor Laboratory)
Case Report: MDFIC gene mutation resulting in central conducting lymphatic anomaly facilitates group A Streptococcus sepsis
Johannes Weidner, Kai Matthias Fiedler, Mechthild Schulze-Becking · 2024 · Frontiers in Pediatrics
PathoEye: a novel deep learning framework for histopathological image analysis of skin tissue
Yusen Lin, Feiyan Lin, Yongjun Zhang · 2024 · ACM International Conference on Bioinformatics, Computational Biology, and Health Informatics (ACM-BCB)
Evolutionarily Developed Alternatively Spliced Exons Containing Translation Initiation Sites
Jun‐ichi Takeda, Takaaki Okamoto, Akio Masuda · 2024 · Cells
SpliceSelectNet: a hierarchical Transformer-based deep learning model for splice site prediction
Yuna Miyachi, Kenta Nakai · 2026 · Nucleic Acids Research
Dissect Gender-Dependent Susceptibility SNPs in Progressive Osteoarthritis Using Regulator Motif Candidate of Genetic Association Strategy (RMCGA)
Yin-Shiuan Bai, Ding-Lian Wang, Meng-Chang Lee · 2025 · International Journal of Molecular Sciences
Body mass index is a mediumiator of the genetic association between STK39 and blood pressure in Mexican women
Alicia Huerta-Chagoya, Hortensia Moreno-Macías, María Luisa Ordoñez-Sánchez · 2022 · Research Square
Exploration of the genetic architecture of ANCA-associated vasculitis
Byun, Jinyoung, Shaw, Vikram R., Zhu, Catherine, Han, Younghun, Sun, Ryan, Zhang, Zhihui, Xiao, Xiangjun, Pinder, Benjamin D., Zhang, Jinyi, Tadesse, Yohannes et al. · 2026 · eBioMedicine
Triangulating evidence to detect signatures of stabilizing selection acting on protein levels in humans
Zanoaga, Mihaela-Diana, Cavinato, Théo, Latrille, Thibault, Liska, Orsolya, Schoeler, Tabea, Papp, Balázs, Kutalik, Zoltán · 2026
Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autism
Satterstrom, F. Kyle, Kosmicki, Jack A., Wang, Jiebiao, Breen, Michael S., De Rubeis, Silvia, An, Joon-Yong, Peng, Minshi, Collins, Ryan, Grove, Jakob, Klei, Lambertus et al. · 2018