生物
约束(计算机辅助设计)
进化生物学
计算生物学
遗传学
生物进化
数学
几何学
作者
Matthew J. Christmas,Irene M. Kaplow,Diane P. Genereux,Michael X. Dong,Graham M. Hughes,Xue Li,Patrick F. Sullivan,Allyson G. Hindle,Gregory Andrews,Joel Armstrong,Matteo Bianchi,Ana M. Breit,Mark Diekhans,Cornelia Fanter,Nicole M. Foley,Daniel B. Goodman,Linda Goodman,Kathleen C. Keough,Bogdan Kirilenko,Amanda Kowalczyk
出处
期刊:Science
[American Association for the Advancement of Science (AAAS)]
日期:2023-04-27
卷期号:380 (6643): eabn3943-eabn3943
被引量:244
标识
DOI:10.1126/science.abn3943
摘要
Zoonomia is the largest comparative genomics resource for mammals produced to date. By aligning genomes for 240 species, we identify bases that, when mutated, are likely to affect fitness and alter disease risk. At least 332 million bases (~10.7%) in the human genome are unusually conserved across species (evolutionarily constrained) relative to neutrally evolving repeats, and 4552 ultraconserved elements are nearly perfectly conserved. Of 101 million significantly constrained single bases, 80% are outside protein-coding exons and half have no functional annotations in the Encyclopedia of DNA Elements (ENCODE) resource. Changes in genes and regulatory elements are associated with exceptional mammalian traits, such as hibernation, that could inform therapeutic development. Earth's vast and imperiled biodiversity offers distinctive power for identifying genetic variants that affect genome function and organismal phenotypes.
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