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 C 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, Colleen Lawless, Abigail L Lind, Jennifer RS Meadows, Lucas R Moreira, Ruby W Redlich, Louise Ryan, Ross Swofford, Alejandro Valenzuela, Franziska Wagner, Ola Wallerman, Ashley R Brown, Joana Damas, Kaili Fan, John Gatesy, Jenna Grimshaw, Jeremy Johnson, Sergey V Kozyrev, Alyssa J Lawler, Voichita D Marinescu, Kathleen M Morrill, Austin Osmanski, Nicole S Paulat, BaDoi N Phan, Steven K Reilly, Daniel E Schäffer, Cynthia Steiner, Megan A Supple, Aryn P Wilder, Morgan E Wirthlin, James R Xue, Zoonomia Consortium §, Bruce W Birren, Steven Gazal, Robert M Hubley, Klaus-Peter Koepfli, Tomas Marques-Bonet, Wynn K Meyer, Martin Nweeia, Pardis C Sabeti, Beth Shapiro, Arian FA Smit, Mark S Springer, Emma C Teeling, Zhiping Weng, Michael Hiller, Danielle L Levesque, Harris A Lewin, William J Murphy, Arcadi Navarro, Benedict Paten, Katherine S Pollard, David A Ray, Irina Ruf, Oliver A Ryder, Andreas R Pfenning, Kerstin Lindblad-Toh, Elinor K Karlsson
发表日期
2023/4/28
期刊
Science
卷号
380
期号
6643
页码范围
eabn3943
出版商
American Association for the Advancement of Science
简介
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 …
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MJ Christmas, IM Kaplow, DP Genereux, MX Dong… - Science, 2023