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Histologic and Quality Assessment of Genotype-Tissue Expression (GTEx) Research Samples: A Large Postmortem Tissue

Leslie Sobin1, Mary Barcus1, Philip A Branton2

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The National Institutes of Health Genotype-Tissue Expression (GTEx) project ensures high-quality biospecimens for genetic variation studies. Most tissues met standards for RNA sequencing, providing a valuable resource for research.

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Area of Science:

  • Genomics
  • Molecular Biology
  • Bioinformatics

Background:

  • The National Institutes of Health Genotype-Tissue Expression (GTEx) project aims to understand how genetic variations impact gene expression across diverse human tissues.
  • Quality assessment of biospecimens is crucial for reliable downstream analyses, including evaluation of preanalytic factors and underlying disease conditions.

Purpose of the Study:

  • To assess the quality of biospecimens collected for the GTEx project.
  • To identify tissue-specific challenges in procurement and preservation.
  • To evaluate the suitability of tissues for RNA sequencing and other molecular analyses.

Main Methods:

  • Pathological evaluation of electronic images of nearly 30,000 tissue specimens from approximately 1000 postmortem donors.
  • Assessment of autolysis, tissue purity, and extraneous tissue by board-certified pathologists.
  • Evaluation of tissue-specific differences in autolysis, RNA integrity, postmortem interval, and rapidity of death.

Main Results:

  • Ninety-five percent of collected tissues were of sufficient quality for RNA sequencing.
  • Observed significant tissue-specific differences in autolysis and RNA integrity.
  • Identified tissue-specific susceptibilities related to postmortem interval and rapidity of death.

Conclusions:

  • The GTEx project successfully generated a high-quality, comprehensive resource of biospecimens and associated data.
  • The GTEx data, including genomic and clinical information, supports a wide range of scientific investigations.
  • GTEx biospecimens and data are publicly available, facilitating extensive research use and contributing to numerous publications.