Abstract
Many human diseases are the result of early developmental defects. As most paediatric diseases and disorders are rare, children are critically underrepresented in research. Functional genomics studies primarily rely on adult tissues and lack critical cell states in specific developmental windows. In parallel, little is known about the conservation of developmental programmes across non-human primate (NHP) species, with implications for human evolution. Here we introduce the developmental Genotype-Tissue Expression (dGTEx) projects, which span humans and NHPs and aim to integrate gene expression, regulation and genetics data across development and species. The dGTEx cohort will consist of 74 tissue sites across 120 human donors from birth to adulthood, and developmentally matched NHP age groups, with additional prenatal and adult animals, with 126 rhesus macaques (Macaca mulatta) and 72 common marmosets (Callithrix jacchus). The data will comprise whole-genome sequencing, extensive bulk, single-cell and spatial gene expression profiles, and chromatin accessibility data across tissues and development. Through community engagement and donor diversity, the human dGTEx study seeks to address disparities in genomic research. Thus, dGTEx will provide a reference human and NHP dataset and tissue bank, enabling research into developmental changes in expression and gene regulation, childhood disorders and the effect of genetic variation on development.
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Acknowledgements
This research is supported by the National Human Genome Research Institute (NHGRI), the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), the National Institute of Neurological Disorders and Stroke (NINDS), the National Institute of Mental Health (NIMH) and the Office of Research Infrastructure Programs under awards U24 HD106537, U24 HG012090, U24 HG012108 and U24 HG012483. T.H.H.C. is supported by an EMBO long-term fellowship (ALTF 172-2022). We thank the donors and their families for making this study possible. The views and opinions expressed in this manuscript are those of the authors only and do not necessarily represent the views, official policy or position of the US Department of Health and Human Services or any of its affiliated institutions or agencies.
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Coorens, T.H.H., Guillaumet-Adkins, A., Kovner, R. et al. The human and non-human primate developmental GTEx projects. Nature 637, 557–564 (2025). https://doi.org/10.1038/s41586-024-08244-9
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DOI: https://doi.org/10.1038/s41586-024-08244-9
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