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

TLDR

The GTEx project, funded by the NIH Common Fund, seeks to link human genetic variation with tissue‑specific gene expression in healthy individuals, but high‑quality biospecimen collection has been a major obstacle. The authors present an infrastructure built by multiple partners to prospectively collect, annotate, and distribute blood, tissues, and cell lines for GTEx. This system, implemented through collaborations with rapid autopsy and organ procurement organizations, enables standardized biospecimen procurement and data annotation. The resulting biospecimens, clinical and genomic data, and standard operating procedures are publicly available to the research community.

Abstract

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.