Evolutionary constraint and innovation across hundreds of placental mammals.
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ABSTRACT:
SUBMITTER: Christmas MJ
PROVIDER: S-EPMC10250106 | biostudies-literature | 2023 Apr
REPOSITORIES: biostudies-literature
Publications
Evolutionary constraint and innovation across hundreds of placental mammals.
Christmas Matthew J MJ Kaplow Irene M IM Genereux Diane P DP Dong Michael X MX Hughes Graham M GM Li Xue X Sullivan Patrick F PF Hindle Allyson G AG Andrews Gregory G Armstrong Joel C JC Bianchi Matteo M Breit Ana M AM Diekhans Mark M Fanter Cornelia C Foley Nicole M NM Goodman Daniel B DB Goodman Linda L Keough Kathleen C KC Kirilenko Bogdan B Kowalczyk Amanda A Lawless Colleen C Lind Abigail L AL Meadows Jennifer R S JRS Moreira Lucas R LR Redlich Ruby W RW Ryan Louise L Swofford Ross R Valenzuela Alejandro A Wagner Franziska F Wallerman Ola O Brown Ashley R AR Damas Joana J Fan Kaili K Gatesy John J Grimshaw Jenna J Johnson Jeremy J Kozyrev Sergey V SV Lawler Alyssa J AJ Marinescu Voichita D VD Morrill Kathleen M KM Osmanski Austin A Paulat Nicole S NS Phan BaDoi N BN Reilly Steven K SK Schäffer Daniel E DE Steiner Cynthia C Supple Megan A MA Wilder Aryn P AP Wirthlin Morgan E ME Xue James R JR Birren Bruce W BW Gazal Steven S Hubley Robert M RM Koepfli Klaus-Peter KP Marques-Bonet Tomas T Meyer Wynn K WK Nweeia Martin M Sabeti Pardis C PC Shapiro Beth B Smit Arian F A AFA Springer Mark S MS Teeling Emma C EC Weng Zhiping Z Hiller Michael M Levesque Danielle L DL Lewin Harris A HA Murphy William J WJ Navarro Arcadi A Paten Benedict B Pollard Katherine S KS Ray David A DA Ruf Irina I Ryder Oliver A OA Pfenning Andreas R AR Lindblad-Toh Kerstin K Karlsson Elinor K EK
Science (New York, N.Y.) 20230428 6643
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% ...[more]
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