The human and non-human primate developmental GTEx projects

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.