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Related Experiment Video

Updated: May 11, 2026

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The human and non-human primate developmental GTEx projects.

Tim H H Coorens1, Amy Guillaumet-Adkins2, Rothem Kovner3

  • 1Broad Institute of MIT and Harvard, Cambridge, MA, USA. tcoorens@broadinstitute.org.

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|January 15, 2025
PubMed
Summary
This summary is machine-generated.

The developmental Genotype-Tissue Expression (dGTEx) project provides crucial gene expression and genetic data across human and non-human primate development. This resource aids research into childhood disorders and evolutionary developmental biology.

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Area of Science:

  • Genomics
  • Developmental Biology
  • Comparative Biology

Background:

  • Human diseases often stem from developmental defects, yet children are underrepresented in research.
  • Current functional genomics studies lack critical developmental windows and data on cross-species developmental program conservation.
  • Understanding developmental gene regulation is vital for human health and evolution.

Purpose of the Study:

  • To establish the developmental Genotype-Tissue Expression (dGTEx) project, integrating gene expression, regulation, and genetics across human and non-human primate development.
  • To create a comprehensive reference dataset and tissue bank for studying developmental changes and genetic variation.
  • To address disparities in genomic research through community engagement and diverse donor recruitment.

Main Methods:

  • The dGTEx cohort includes 120 human donors (birth to adulthood) and developmentally matched non-human primates (rhesus macaques and common marmosets).
  • Data generated include whole-genome sequencing, bulk, single-cell, and spatial gene expression profiles, and chromatin accessibility data.
  • Integration of multi-omics data across tissues and developmental stages.

Main Results:

  • A large-scale, multi-species dataset spanning human and non-human primate development is established.
  • Comprehensive gene expression, regulation, and genetic variation data across 74 tissue sites and multiple developmental stages are collected.
  • The project provides a foundation for comparative genomics and developmental studies.

Conclusions:

  • The dGTEx project offers an unprecedented resource for investigating developmental biology, childhood disorders, and human evolution.
  • This initiative will significantly advance our understanding of gene regulation during development across species.
  • Addressing research disparities and promoting diversity are central to the human dGTEx study's impact.