@article {329030,
	title = {Evolutionary constraint and innovation across hundreds of placental mammals.},
	journal = {Science},
	volume = {380},
	year = {2023},
	month = {2023 Apr 28},
	pages = {eabn3943},
	abstract = {<p>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{\textquoteright}s vast and imperiled biodiversity offers distinctive power for identifying genetic variants that affect genome function and organismal phenotypes.</p>
},
	keywords = {Animals, Conserved Sequence, Eutheria, Evolution, Molecular, Female, Genome, Human, Humans},
	issn = {1095-9203},
	doi = {10.1126/science.abn3943},
	author = {Christmas, Matthew J and Kaplow, Irene M and Genereux, Diane P and Dong, Michael X and Hughes, Graham M and Li, Xue and Sullivan, Patrick F and Hindle, Allyson G and Andrews, Gregory and Armstrong, Joel C and Bianchi, Matteo and Breit, Ana M and Diekhans, Mark and Fanter, Cornelia and Foley, Nicole M and Goodman, Daniel B and Goodman, Linda and Keough, Kathleen C and Kirilenko, Bogdan and Kowalczyk, Amanda and Lawless, Colleen and Lind, Abigail L and Meadows, Jennifer R S and Moreira, Lucas R and Redlich, Ruby W and Ryan, Louise and Swofford, Ross and Valenzuela, Alejandro and Wagner, Franziska and Wallerman, Ola and Brown, Ashley R and Damas, Joana and Fan, Kaili and Gatesy, John and Grimshaw, Jenna and Johnson, Jeremy and Kozyrev, Sergey V and Lawler, Alyssa J and Marinescu, Voichita D and Morrill, Kathleen M and Osmanski, Austin and Paulat, Nicole S and Phan, BaDoi N and Reilly, Steven K and Sch{\"a}ffer, Daniel E and Steiner, Cynthia and Supple, Megan A and Wilder, Aryn P and Wirthlin, Morgan E and Xue, James R and Birren, Bruce W and Gazal, Steven and Hubley, Robert M and Koepfli, Klaus-Peter and Marques-Bonet, Tomas and Meyer, Wynn K and Nweeia, Martin and Sabeti, Pardis C and Shapiro, Beth and Smit, Arian F A and Springer, Mark S and Teeling, Emma C and Weng, Zhiping and Hiller, Michael and Levesque, Danielle L and Lewin, Harris A and Murphy, William J and Navarro, Arcadi and Paten, Benedict and Pollard, Katherine S and Ray, David A and Ruf, Irina and Ryder, Oliver A and Pfenning, Andreas R and Lindblad-Toh, Kerstin and Karlsson, Elinor K}
}
