Article
Leveraging base-pair mammalian constraint to understand genetic variation and human disease.
Science (New York, N.Y.) - 28 Apr 2023
Sullivan Patrick F, Meadows Jennifer R S, Gazal Steven, Phan BaDoi N, Li Xue, Genereux Diane P, Dong Michael X, Bianchi Matteo, Andrews Gregory, Sakthikumar Sharadha, Nordin Jessika, Roy Ananya, Christmas Matthew J, Marinescu Voichita D, Wang Chao, Wallerman Ola, Xue James, Yao Shuyang, Sun Quan, Szatkiewicz Jin, Wen Jia, Huckins Laura M, Lawler Alyssa, Keough Kathleen C, Zheng Zhili, Zeng Jian, Wray Naomi R, Li Yun, Johnson Jessica, Chen Jiawen, Paten Benedict, Reilly Steven K, Hughes Graham M, Weng Zhiping, Pollard Katherine S, Pfenning Andreas R, Forsberg-Nilsson Karin, Karlsson Elinor K, Lindblad-Toh Kerstin
Abstract excerpt
Thousands of genomic regions have been associated with heritable human diseases, but attempts to elucidate biological mechanisms are impeded by an inability to discern which genomic positions are functionally important. Evolutionary constraint is a powerful predictor of function, agnostic to cell type or disease mechanism. Single-base phyloP scores from 240 mammals identified 3.3% of the human genome as...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.