The Genotype-Tissue Expression (GTEx) Project

The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans

The GTEx Consortium, Ardlie, K. G., Deluca, D. S., Segrè, A. V., Sullivan, T. J., Young, T. R., Gelfand, E. T., Trowbridge, C. A., Maller, J. B., Tukiainen, T., et al. (2015) · Science · doi:10.1126/science.1262110 · Cited by 5,062

A Novel Approach to High-Quality Postmortem Tissue Procurement: The GTEx Project

Carithers, L. J., Ardlie, K., Barcus, M., Branton, P. A., Britton, A., Buia, S. A., Compton, C. C., DeLuca, D. S., Peter-Demchok, J., Gelfand, E. T., et al. (2015) · Biopreservation and Biobanking · doi:10.1089/bio.2015.0032 · Cited by 833

Family decision maker perspectives on the return of genetic results in biobanking research

Siminoff, L. A., Traino, H. M., Mosavel, M., Barker, L. K., Gudger, G., & Undale, A. H. (2015) · Genetics in Medicine · doi:10.1038/gim.2015.38 · Cited by 36

Times Are Changing: 35 Years of Human Biospecimen Procurements for the National Disease Research Interchange

Bell, T. J., & Leinweber, B. (2015) · Biopreservation and Biobanking · doi:10.1089/bio.2015.29032.tjb · Cited by 6

Additional file 24 of Integration of metabolomics, genomics, and immune phenotypes reveals the causal roles of metabolites in disease

Chu, X., Jaeger, M., Beumer, J., Bakker, O. B., Aguirre‐Gamboa, R., Oosting, M., Smeekens, S. P., Moorlag, S. J. C. F. M., Mourits, V. P., Koeken, V. A. C. M., et al. (2021) · Figshare · doi:10.6084/m9.figshare.14921224

Additional file 18 of Integration of metabolomics, genomics, and immune phenotypes reveals the causal roles of metabolites in disease

Chu, X., Jaeger, M., Beumer, J., Bakker, O. B., Aguirre‐Gamboa, R., Oosting, M., Smeekens, S. P., Moorlag, S. J. C. F. M., Mourits, V. P., Koeken, V. A. C. M., et al. (2021) · Figshare · doi:10.6084/m9.figshare.14921203

Additional file 15 of Integration of metabolomics, genomics, and immune phenotypes reveals the causal roles of metabolites in disease

Chu, X., Jaeger, M., Beumer, J., Bakker, O. B., Aguirre‐Gamboa, R., Oosting, M., Smeekens, S. P., Moorlag, S. J. C. F. M., Mourits, V. P., Koeken, V. A. C. M., et al. (2021) · Figshare · doi:10.6084/m9.figshare.14921194

Tools and Databases in Transcriptomics Analysis: Recent Knowledge and Advancements

Mishra, S. K., Roy, S., Chhetri, T., Chandran, K. P., & Georrge, J. J. (2024) · Elsevier eBooks · doi:10.1016/b978-0-323-95502-7.00067-1

Optimal variable identification for accurate detection of causal expression Quantitative Trait Loci with applications in heart-related diseases

Wang, G., Zhang, H., Shao, M., Tian, M., Feng, H., Li, Q., & Cao, C. (2024) · Computational and Structural Biotechnology Journal · doi:10.1016/j.csbj.2024.05.050

A Computational Approach to Interpreting the Embedding Space of Dimension ReductionPreprint

Zhang, B., Uno, K., Kodama, H., Himori, K., & Matsui, Y. (2024) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2024.06.23.600292

Balanced polymorphisms in gamete-binding genes are not associated with human infertilityPreprint

Hart, M. W., Crespi, B. J., & Seethram, K. (2024) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2024.10.11.617896

Genome-wide machine learning analysis of anosmia and ageusia with COVID-19

Pietan, L., Phillippi, E. S., Melo, M., El‐Shanti, H., Smith, B. J., Darbro, B. W., Braun, T. A., & Casavant, T. L. (2026) · PLoS ONE · doi:10.1371/journal.pone.0355832

Association of Polymorphism in Locus of rs274503 ( ZBED5 / GALNT18 ) with the Risk of Idiopathic Clubfoot in Chinese Children: An 11-Center Case–Control Study

Li, J., Kang, X., Zhu, G., Zhao, Z., Chen, S., Guo, Y., Shen, X., Shao, J., Jiang, F., Li, J., et al. (2024) · Genetic Testing and Molecular Biomarkers · doi:10.1089/gtmb.2023.0477

HemaCisDB: An Interactive Database for Analyzing Cis -regulatory Elements Across Hematopoietic Malignancies

Cai, X., Zhang, Q., Liu, B., Sun, L., & Liu, Y. (2024) · Genomics Proteomics & Bioinformatics · doi:10.1093/gpbjnl/qzae088

Association between METTL14 gene polymorphisms and risk of ovarian endometriosis

Zhou, Z., Jie, Y., Hu, X., Chen, G., Bao, Y., OuYang, Z., Wu, L., Gao, T., Zhang, Q., & Hua, W. (2025) · Frontiers in Genetics · doi:10.3389/fgene.2024.1460216

Network Embedding for Peripheral Weak Genetic Effects of Complex Diseases

Li, J., Wang, B., Han, C., & He, J. (2024) · IEEE International Conference on Bioinformatics and Biomedicine (BIBM) · doi:10.1109/bibm62325.2024.10822247

Discovering Novel Genome Mutations Associated with Liver and Pancreas Disorders: Insights from a Radiogenomics StudyPreprint

Koohi-Moghdam, M., Vardhanabhuti, V., Wang, J., Chan, A., & Bae, K. T. (2025) · medRxiv · doi:10.1101/2025.01.14.25320567

Identification of Pathogenic Regulatory Variants in Mendelian Diseases

Jan, Z., Balyan, M. K., Nisamudheen, N. A., Velayutham, D., Balyan, P., & Jithesh, P. V. (2025) · Elsevier eBooks · doi:10.1016/b978-0-323-95502-7.00289-x

Biomedical Image Datasets

Berezsky, O., Melnyk, G., Liashchynskyi, P. B., & Pitsun, O. (2025) · Lecture notes on data engineering and communications technologies · doi:10.1007/978-3-031-88483-2_3

Identification of MMP14 and MKLN1 as colorectal cancer susceptibility genes and drug-repositioning candidates from a genome-wide association study

Yun, D., Yang, J.-H., Sim, J.-A., Kim, M. J., Park, J. W., Jeong, S. Y., Shin, A., Kweon, S., & Song, N. (2025) · Journal of Translational Medicine · doi:10.1186/s12967-025-06491-6

Integrating gene mutation spectra from tumors and the general population with gene expression topological networks to identify novel cancer driver genes

Yang, S., He, D., Li, L., Lu, Z., Li, S., Lan, T., Liu, F., Zhang, H., Cooper, D. N., & Zhao, H. (2025) · Human Genetics · doi:10.1007/s00439-025-02755-9 · Cited by 2

AI Advancements in Tailored Healthcare for Neurodevelopmental Disorders

Malviya, R., Kumar, S., Solanke, A. S., Goyal, P., & Chauhan, K. (2025) · Wiley eBooks · doi:10.1002/9781394347537.ch8

Identification of Rare Variants in Schizophrenia-relevant Pathways: A Computational Analysis

Slay, O. K. (2024) · Sheffield Hallam University · doi:10.7190/shu-thesis-00693

Single-cell splicing QTL analysis in pancreatic islets

Cho, J.-W., Cao, J., & Hemberg, M. (2025) · Frontiers in Bioinformatics · doi:10.3389/fbinf.2025.1657895

Reproducible autosomal gene expression changes with loss of typical X and Y complement across tumor typesPreprint

Plaisier, S., Phavong, R., Farmwald, M., Lee, M., Allen, T., Swamy, M., Rodriguez, I., Wells, M., Phaneuf, N., Massey, S., et al. (2025) · bioRxiv · doi:10.1101/2025.09.24.678401

Prognostic, mutational, and immunologic analysis of CD90 in pan-cancer and validation of DHDK as a drug candidate

Zhao, J., Wang, Y., Zhang, F., Wang, X., Meng, L., Hong, J., Guo, D., Di, X., & Zhao, Y. (2025) · Naunyn-Schmiedeberg s Archives of Pharmacology · doi:10.1007/s00210-025-04598-7

Over-transmission of NF1 mutant alleles in Neurofibromatosis type 1Preprint

Pei, Y., Browne, A., Creus‐Bachiller, E., Lázaro, C., Castellanos, E., Upadhyaya, M., Riccardi, V. M., Wallace, M. R., & Goriely, A. (2025) · medRxiv · doi:10.1101/2025.10.06.25337162

COPD-associated proteins as biomarkers and drug targets: Insights from genetic and proteomic analyses

Lin, X., Zheng, Q., Ma, J., Ouyang, W., & Chen, B. (2025) · Medicine · doi:10.1097/md.0000000000045102

Exploring Contraindicated Medications and Corresponding Targeted Genes for Migraine Through Integrated Genetic Approaches

Nan, W., Liang, W., Wen, Z., Liao, W., Xie, Z., Zhou, Z., Yang, Z., Ju, X., Zhou, H., & Huang, C. (2025) · Brain and Behavior · doi:10.1002/brb3.71056

Additional file 25 of Integration of metabolomics, genomics, and immune phenotypes reveals the causal roles of metabolites in disease

Chu, X., Jaeger, M., Beumer, J., Bakker, O. B., Aguirre-Gamboa, R., Oosting, M., Smeekens, S. P., Moorlag, S. J. C. F. M., Mourits, V. P., Koeken, V. A. C. M., et al. (2021) · Figshare · doi:10.6084/m9.figshare.14921227

Additional file 2 of Specific splice junction detection in single cells with SICILIAN

Dehghannasiri, R., Olivieri, J. E., Damljanovic, A., & Salzman, J. (2021) · Figshare · doi:10.6084/m9.figshare.15122245

Additional file 1 of MI-MAAP: marker informativeness for multi-ancestry admixed populations

Chen, S., Ghandikota, S. K., Gautam, Y., & Baye, T. M. (2020) · Figshare · doi:10.6084/m9.figshare.12172068

Additional file 1 of Recovering genotypes and phenotypes using allele-specific genes

Gürsoy, G., Lu, N., Wagner, S., & Gerstein, M. (2021) · Figshare · doi:10.6084/m9.figshare.16584317

Additional file 2 of Identifying novel genetic variants for brain amyloid deposition: a genome-wide association study in the Korean population

Kim, H.-R., Jung, S.-H., Kim, J., Jang, H., Kang, S. H., Hwangbo, S., Kim, J. P., Kim, S. Y., Kim, B., Kim, S., et al. (2021) · Figshare · doi:10.6084/m9.figshare.14821168

Additional file 3 of MI-MAAP: marker informativeness for multi-ancestry admixed populations

Chen, S., Ghandikota, S. K., Gautam, Y., & Baye, T. M. (2020) · Figshare · doi:10.6084/m9.figshare.12172080

Additional file 2 of MI-MAAP: marker informativeness for multi-ancestry admixed populations

Chen, S., Ghandikota, S. K., Gautam, Y., & Baye, T. M. (2020) · Figshare · doi:10.6084/m9.figshare.12172074

Additional file 1 of Specific splice junction detection in single cells with SICILIAN

Dehghannasiri, R., Olivieri, J. E., Damljanovic, A., & Salzman, J. (2021) · Figshare · doi:10.6084/m9.figshare.15122242

Additional file 3 of Recovering genotypes and phenotypes using allele-specific genes

Gürsoy, G., Lu, N., Wagner, S., & Gerstein, M. (2021) · Figshare · doi:10.6084/m9.figshare.16584323

Additional file 4 of MI-MAAP: marker informativeness for multi-ancestry admixed populations

Chen, S., Ghandikota, S. K., Gautam, Y., & Baye, T. M. (2020) · Figshare · doi:10.6084/m9.figshare.12172086

Additional file 6 of Recovering genotypes and phenotypes using allele-specific genes

Gürsoy, G., Lu, N., Wagner, S., & Gerstein, M. (2021) · Figshare · doi:10.6084/m9.figshare.16584332

Additional file 1 of Missense variants in CYP4B1 associated with increased risk of lung cancer among Chinese Han population

Yang, Y., Yuan, S., Yan, S., Dong, K., & Yang, Y. (2023) · Figshare · doi:10.6084/m9.figshare.24546926

Additional file 4 of Recovering genotypes and phenotypes using allele-specific genes

Gürsoy, G., Lu, N., Wagner, S., & Gerstein, M. (2021) · Figshare · doi:10.6084/m9.figshare.16584326

Additional file 1 of The effects of sequencing depth on the assembly of coding and noncoding transcripts in the human genome

Babarinde, I. A., & Hutchins, A. P. (2022) · Figshare · doi:10.6084/m9.figshare.20227027

Additional file 2 of Recovering genotypes and phenotypes using allele-specific genes

Gürsoy, G., Lu, N., Wagner, S., & Gerstein, M. (2021) · Figshare · doi:10.6084/m9.figshare.16584320

Additional file 1 of Identifying novel genetic variants for brain amyloid deposition: a genome-wide association study in the Korean population

Kim, H.-R., Jung, S.-H., Kim, J., Jang, H., Kang, S. H., Hwangbo, S., Kim, J. P., Kim, S. Y., Kim, B., Kim, S., et al. (2021) · Figshare · doi:10.6084/m9.figshare.14821165

Additional file 5 of Recovering genotypes and phenotypes using allele-specific genes

Gürsoy, G., Lu, N., Wagner, S., & Gerstein, M. (2021) · Figshare · doi:10.6084/m9.figshare.16584329

Additional file 5 of Integration of metabolomics, genomics, and immune phenotypes reveals the causal roles of metabolites in disease

Chu, X., Jaeger, M., Beumer, J., Bakker, O. B., Aguirre-Gamboa, R., Oosting, M., Smeekens, S. P., Moorlag, S. J. C. F. M., Mourits, V. P., Koeken, V. A. C. M., et al. (2021) · Figshare · doi:10.6084/m9.figshare.14921239

Multi-omics pan-cancer analysis reveals an immunological role and prognostic potential of WDR76Preprint

Billah, M. M., Mabsurah, K., Ahammad, K., Yeana, I. J., Sumaiya, M., Islam, T., Bhattacharjee, A., Ferdous, J., & Hossain, M. J. (2025) · Research Square · doi:10.21203/rs.3.rs-7837284/v1

A Genome‐Wide Association Study of Colorectal Cancer Mortality Outcomes Among Individuals of African and Admixture Ancestry

Lawler, T., Long, J., Welch, R., Ong, I. M., Ogunmuyiwa, O., Khatri, R. A., Shrubsole, M., & Andersen, S. W. (2026) · Molecular Carcinogenesis · doi:10.1002/mc.70086

Decoding the dark genome reveals its organisation into modular disease networks

Kafita, D., Dzobo, K., Nkhoma, P., & Sinkala, M. (2026) · Scientific Reports · doi:10.1038/s41598-026-40553-z

ULK4 and CDKN2A polymorphisms influence the risk of developing monoclonal gammopathy of undetermined significance

Sánchez‐Maldonado, J. M., Macauda, A., Cabrera-Serrano, A. J., Thomsen, H., Güler, M., ter Horst, R., Guelpen, B. R. V., Vodička, P., Landi, S., Chattopadhyay, S., et al. (2026) · International Journal of Cancer · doi:10.1002/ijc.70427

A Multiplexed Quantitative Analysis of Germline Single Amino Acid Variants by Targeted Proteomics in Nondepleted Human Plasma

Dakup, P., Lin, T., Sarkar, S., Schepmoes, A., Fillmore, T., Shi, T., Qian, W., Jacobs, J., & A2CPS Consortium (2026) · Journal of Proteome Research · doi:10.1021/acs.jproteome.5c00928

Identification de gènes responsables de maladies neurologiques héréditaires par séquençage à haut débit

Haidar, Z. (2019) · theses.fr (ABES) · doi:10.70675/3577ad91z4de1z4642zb506zdfe80f5b9c8a

Shared genetic architecture between major depressive disorder and inflammatory bowel disease: Insights from large-scale genome-wide cross-trait analysis

Ding, Y., Luo, Q., Yan, X., Deng, C., Shen, P., Xu, Y., & Zhang, L. (2026) · Human Immunology · doi:10.1016/j.humimm.2026.111730

Caractérisation de la signature moléculaire de la maladie des petites artères cérébrales occultes par l'étude de biomarqueurs multi-omiques

Caro, I. (2024) · theses.fr (ABES) · doi:10.70675/388eeb2az3c39z4bcfza2baz003d1c6c7700

Fusing imaging and metabolic modeling via multimodal deep learning in ovarian cancer

Eftekhari, N., Verma, S., Saha, A., Zampieri, G., Sawan, S., Occhipinti, A., & Angione, C. (2026) · Cell Systems · doi:10.1016/j.cels.2026.101594

A severe neurodevelopmental syndrome linked to a South Asian founder variant in the UFMylation adaptor CDK5RAP3

Yuen, M., Zhang, K., Marchant, R. G., Ishimura, R., Graham, M., Aung-Htut, M. T., Bryen, S. J., Rius, R., Marshall, L., Aryamanesh, N., et al. (2026) · Acta Neuropathologica · doi:10.1007/s00401-026-03017-2

Identification and functional validation of EPS15L1 as a key driver of triple-negative breast cancer

Wang, C., Krishnan, S., Wang, Y.-H., Hsu, K.-C., Hsu, T.-S., Chen, C., Chen, S., & Chung, R. (2026) · npj Breast Cancer · doi:10.1038/s41523-026-00954-9

BUB1B is a novel prognostic-related biomarker and correlated with immune infiltrates in lung adenocarcinoma

Tian, Z., Jia, S., Zheng, Q., Hu, K., Wang, M., Li, P., Li, J., Huang, S., & Sun, Z. (2026) · Clinical & Translational Oncology · doi:10.1007/s12094-026-04454-x

CATS—A tool to contextualize cancer hallmarks to specific cancer types

Sharmin, M., Olgun, G., Agrawal, P., Singh, A., & Hannenhalli, S. S. (2026) · iScience · doi:10.1016/j.isci.2026.116374

Reference Genes for Expression Analyses by RT-qPCR in Hyblaea puera (Lepidoptera: Hyblaeidae)

Li, X., Qin, R., Zhang, W., Wang, F., Zhu, G., Wang, X., Zhang, H., Liu, M. Y., Qu, L., & Yu, H. (2026) · Insects · doi:10.3390/insects17060639

Association between the lincRNA–TDRG1 rs8506 C > T polymorphism and neuroblastoma risk in children from Jiangsu Province

Dong, S., Zhu, J., Zhou, C., Zhang, W., Liu, J., Chang, J., Zhang, X., He, J., & Yi, P. (2026) · European journal of medical research · doi:10.1186/s40001-026-04796-w

Identification of FMR1 as a novel cancer prognostic and immunotherapy biomarker through renal cancer experimental validation and pan-cancer analysis

Yan, H., Xu, F., Cui, X., Zheng, S., Yu, D., Wu, Y., Chen, B. H., & Li, R. (2026) · Discover Oncology · doi:10.1007/s12672-026-05526-8

The Role of ULK3 in Cancer Progression: A Pan-Cancer Bioinformatics Analysis Integrated with Experimental Validation in Prostate Cancer

Han, Y., Zhang, M., Rehemujiang, M., Li, X., Liu, Y., Zhang, N., Sun, M., Zhang, Y., Hasim, A., & Li, M. (2026) · International Journal of Molecular Sciences · doi:10.3390/ijms27136040

Retina-specific long non-coding RNAs associated with inherited retinal disease genes

Delanote, E., Ruiz-Ceja, K. A., Rey, A. D., Capasso, D., Bouckaert, M., Sofia, M., Guida, M. D., Failli, M., López-Soriano, V., Lenaerts, H., et al. (2026) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-026-06259-1

Targeting enolase isoenzyme 2 enables precision glycolysis inhibition in VHL-mutant renal cell carcinoma

Yao, J., Fan, X., Xin, H., Wan, F., Dong, X., Sun, Q., Huang, X., Liu, H., Chen, X., Jia, Y., et al. (2026) · Cell Death and Disease · doi:10.1038/s41419-026-09102-4

Transmission ratio distortion of NF1 variant alleles in familial neurofibromatosis type 1

Pei, Y., Browne, A., Creus‐Bachiller, E., Lazaro, C., Perez, E. C., Upadhyaya, M., Riccardi, V. M., Wallace, M. R., & Goriely, A. (2026) · Genetics in Medicine · doi:10.1016/j.gim.2026.102682

Insights from GWAS, TWAS, and DEG analysis: CDKN2B-AS1, MAP3K4, and P2RX2-encoded P2X2 receptor identified as potential therapeutic targets for ischemic heart disease in Russian adults and long-living individuals

Daniel, V., Romanova, N., Александровна, М. А., Nartova, A., Abushinova, G., Ivanov, M. V., Владиславович, Е. М., Meshkov, A., Gomyranova, N. V., Vasiliev, V., et al. (2026) · Frontiers in Cardiovascular Medicine · doi:10.3389/fcvm.2026.1839477

Integrated transcriptomic and immunogenomic analysis unravels the immunological functions and prognostic landscape of WD repeat domain 76

Wang, Y., Zhou, R., Guo, S., Nan, S., Duan, Y., Cao, L., Huang, X., & Yan, H. (2026) · International Journal of Immunopathology and Pharmacology · doi:10.1177/03946320261486727

Integrative bioinformatics guided target identification and inhibitor discovery in hepatocellular carcinoma

Bakane, Y., Kar, A., & Sobhia, M. E. (2026) · In Silico Research in Biomedicine · doi:10.1016/j.insi.2026.100624

Role of BTLA in ovarian cancer and its clinical prognostic significance based on multi-omics analysis

Abulajiang, Y., & Wu, Y. (2026) · Journal of Ovarian Research · doi:10.1186/s13048-026-02231-6

The Virtual Eye: An integrative multiscale framework for mechanistic modelling of ocular physiology and disease

Luthert, P. J., Faes, L., Foss, A. J. E., Fu, D. J., Hill, L. J., Huang, R., Kiel, C., Lee, W. H., Matei, Mirams, G. R., et al. (2026) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2026.101529

NOC4L: An Emerging Dual-Action Target for Cancer Prognosis and Immunotherapy

Bai, H., Xu, W., Wei, G., Cao, Y., & Wang, M. (2026) · Applied Biochemistry and Biotechnology · doi:10.1007/s12010-026-05931-3

Alzheimer’s disease target and drug discovery by leveraging multiomics and electronic health data

Hou, Y., Li, Y., Zhang, P., Lorincz‐Comi, N. J., Gohel, D., Fan, F., Qiu, Y., Yang, J., Chen, X., Song, W., et al. (2026) · Nature Neuroscience · doi:10.1038/s41593-026-02472-0

Potential Influence of NUCB2 Genetic Variants on the Clinicopathological Features of Patients with Hepatocellular Carcinoma

Hu, S., Lee, H.-L., Lien, M., Wu, E., He, X.-Y., Yang, S., & Tang, C. (2026) · Diagnostics · doi:10.3390/diagnostics16203400

FAIRsharing record for: Pathway and Annotated-list Gene-signature Electronic Repository

FAIRsharing Team, & Yue, Z. (2018) · FAIRsharing.org · doi:10.25504/fairsharing.6ibl8e

From Form to Function: The GTEx Project Sheds New Light on the Links between Gene Expression and Regulation

Kwon, D. (2017) · Inside Precision Medicine · doi:10.1089/clinomi.04.06.19

Taking genomics research to the next level: The Genotype‐Tissue expression project

Wohlers, I., & Bertram, L. (2018) · Movement Disorders · doi:10.1002/mds.27445 · Cited by 2

GTEx project maps wide range of normal human genetic variation

(2018) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.38426 · Cited by 10

El código de la regulación genética

Ward, M. C. (2018) · Dialnet (Universidad de la Rioja) · Cited by 1

Human genomics. The Genotype-Tissue Expression (GTEx) pilot analysis: multitissue gene regulation in humans

GTEx Consortium (2015) · Archive ouverte UNIGE (University of Geneva) · Cited by 3