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2024
Journal article
Identification of constrained sequence elements across 239 primate genomes
Noncoding DNA is central to our understanding of human gene regulation and complex diseases , and measuring the evolutionary sequence constraint can establish the functional relevance of putative regulatory elements in the human genome . Identifying the genomic elements that have become constrained specifically in primates has been hampered by... -
2023
Journal article
A global catalog of whole-genome diversity from 233 primate species
The rich diversity of morphology and behavior displayed across primate species provides an informative context in which to study the impact of genomic diversity on fundamental biological processes. Analysis of that diversity provides insight into long-standing questions in evolutionary and conservation biology and is urgent given severe threats these species...Kuderna, Lukas F K ; Gao, Hong ; Janiak, Mareike C ; Kuhlwilm, Martin ; Orkin, Joseph D …
evolutionary and conservation biology, primates, and genomic diversity study
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2023
Journal article
The landscape of tolerated genetic variation in humans and primates
Personalized genome sequencing has revealed millions of genetic differences between individuals, but our understanding of their clinical relevance remains largely incomplete. To systematically decipher the effects of human genetic variants, we obtained whole-genome sequencing data for 809 individuals from 233 primate species and identified 4.3 million common protein-altering variants with...Gao, Hong ; Hamp, Tobias ; Ede, Jeffrey ; Schraiber, Joshua G ; McRae, Jeremy …