National Academy of Sciences
Proceedings of the National Academy of Sciences, Volume 122, Issue 21, May 2025.
SignificanceA major focus of human genetics is to identify severely pathogenic variants, both to help diagnose patients and as an entry point into understanding disease mechanisms. To that end, it is often argued that we should sequence large samples from …
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The distribution of highly deleterious variants across human ancestry groups
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Proceedings of the National Academy of Sciences, Volume 122, Issue 21, May 2025. SignificanceA major focus of human genetics is to identify severely pathogenic variants, both to help diagnose patients and as an entry point into understanding disease mechanisms. To that end, it is often argued that we should sequence large samples from …
