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 R S 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, 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 F A 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
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...
April 28, 2023: Science