A Novel Approach to High-Quality Postmortem Tissue Procurement: The GTEx Project
Open accessAbstract
The Genotype-Tissue Expression (GTEx) project, sponsored by the NIH Common Fund, was established to study the correlation between human genetic variation and tissue-specific gene expression in non-diseased individuals. A significant challenge was the collection of high-quality biospecimens for extensive genomic analyses. Here we describe how a successful infrastructure for biospecimen procurement was developed and implemented by multiple research partners to support the prospective collection, annotation, and distribution of blood, tissues, and cell lines for the GTEx project. Other research projects can follow this model and form beneficial partnerships with rapid autopsy and organ procurement organizations to collect high quality biospecimens and associated clinical data for genomic studies. Biospecimens, clinical and genomic data, and Standard Operating Procedures guiding biospecimen collection for the GTEx project are available to the research community.
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DOCK4 is expressed in kidney in GTEx v8.
“DOCK4 is expressed in kidney in GTEx v8, and Dock4 is expressed in mouse kidney proximal tubule cells and distal convoluted tubule cells.”
From Multi-trait association studies discover pleiotropic loci between Alzheimer’s disease and cardiometabolic traits (2021) · cites this paper as [52]
The Discussion (page not specified) says GTEx RNA-sequencing and expression data are publicly available, but does not report DOCK4 expression in kidney. Searches for DOCK4 kidney expression and GTEx v8 kidney gene expression found no passage addressing the claim. (LLM, conf=0.76)
Experimental — accuracy not yet measuredDock4 is expressed in mouse kidney proximal tubule cells and distal convoluted tubule cells.
“DOCK4 is expressed in kidney in GTEx v8, and Dock4 is expressed in mouse kidney proximal tubule cells and distal convoluted tubule cells.”
From Multi-trait association studies discover pleiotropic loci between Alzheimer’s disease and cardiometabolic traits (2021) · cites this paper as [52]
The Introduction describes GTEx as a project studying gene expression in human tissues, and the Discussion describes its publicly available expression data. Searches for Dock4, mouse kidney proximal tubule cells, and distal convoluted tubule cells found no passage addressing the attributed mouse-cell expression claim. The cited paper therefore does not verify that claim. (LLM, conf=0.76)
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- Authors
- 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., Guan, P., Korzeniewski, G. E., Lockhart, N. C., Rabiner, C. A., Rao, A. K., Robinson, K. L., Roche, N. V., Sawyer, S. J., Segrè, A. V., Shive, C. E., Smith, A. M., Sobin, L. H., Undale, A. H., Valentino, K. M., Vaught, J., Young, T. R., Moore, H. M., & on behalf of the GTEx Consortium
- Affiliations
- National Institutes of Health (US)
- Broad Institute (US)
- Leidos Biomedical Research Inc. (United States) (US)
- National Institutes of Health (NIH)
- Corresponding author
- Moore, Helen M.
- ORCID
- Venue
- Biopreservation and Biobanking
- Publisher
- SAGE Publications
- Published
- 2015-10-01
- Volume
- 13
- Issue
- 5
- Pages
- 311-319
- ISSN
- 1947-5535 (ISSN-L)
- 1947-5543
- PMC
- PMC4675181
- OpenAlex
- W2342127666
- Cited by
- 833
- References
- 3
- Citations by year
- 2026: 41 · 2025: 77 · 2024: 83 · 2023: 81 · 2022: 95 · 2021: 112 · 2020: 110 · 2019: 112 · 2018: 73 · 2017: 33 · 2016: 14 · 2015: 1
- FWCI
- 43.61
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- Locations
- Biopreservation and Biobanking (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by-nc)
- PubMed (publishedVersion)
- Repositori digital de la UPF (Universitat Pompeu Fabra) (publishedVersion, cc-by-nc)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- TUScholarShare (Temple University) (submittedVersion, cc-by-nc)
- RECERCAT (Consorci de Serveis Universitaris de Catalunya) (submittedVersion, other-oa)
- Funders
- U.S. Public Health Service (HHSN268201000029C, HHSN261200800001E, 10XS170, 10XS171, 10X172)
- National Institute on Drug Abuse (R01DA006227)
- National Human Genome Research Institute (U01HG007610)
- National Cancer Institute (P30CA016056)
- National Institute of Diabetes and Digestive and Kidney Diseases (P30DK020595)
- Topics
- Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Ethics in Clinical Research
- Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Organ Donation and Transplantation
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Keywords
- rapid autopsy, organ procurement, tissue-specific gene expression, genetic variation, cell lines, blood samples, research collaboration
- MeSH terms
- Humans, Tissue and Organ Procurement, Tissue Banks, Biomedical Research
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