Authors
Kerstin Lindblad-Toh, Manuel Garber, Or Zuk, Michael F Lin, Brian J Parker, Stefan Washietl, Pouya Kheradpour, Jason Ernst, Gregory Jordan, Evan Mauceli, Lucas D Ward, Craig B Lowe, Alisha K Holloway, Michele Clamp, Sante Gnerre, Jessica Alföldi, Kathryn Beal, Jean Chang, Hiram Clawson, James Cuff, Federica Di Palma, Stephen Fitzgerald, Paul Flicek, Mitchell Guttman, Melissa J Hubisz, David B Jaffe, Irwin Jungreis, W James Kent, Dennis Kostka, Marcia Lara, Andre L Martins, Tim Massingham, Ida Moltke, Brian J Raney, Matthew D Rasmussen, Jim Robinson, Alexander Stark, Albert J Vilella, Jiayu Wen, Xiaohui Xie, Michael C Zody, Broad Institute Sequencing Platform and Whole Genome Assembly Team Baldwin Jen 20 Bloom Toby 20 Whye Chin Chee 20 Heiman Dave 20 Nicol Robert 20 Nusbaum Chad 20 Young Sarah 20 Wilkinson Jane 20, Kim C Worley, Christie L Kovar, Donna M Muzny, Richard A Gibbs, Baylor College of Medicine Human Genome Sequencing Center Sequencing Team Cree Andrew 21 Dihn Huyen H. 21 Fowler Gerald 21 Jhangiani Shalili 21 Joshi Vandita 21 Lee Sandra 21 Lewis Lora R. 21 Nazareth Lynne V. 21 Okwuonu Geoffrey 21 Santibanez Jireh 21, Wesley C Warren, Elaine R Mardis, George M Weinstock, Richard K Wilson, Genome Institute at Washington University Delehaunty Kim 22 Dooling David 22 Fronik Catrina 22 Fulton Lucinda 22 Fulton Bob 22 Graves Tina 22 Minx Patrick 22 Sodergren Erica 22 23, Ewan Birney, Elliott H Margulies, Javier Herrero, Eric D Green, David Haussler, Adam Siepel, Nick Goldman, Katherine S Pollard, Jakob S Pedersen, Eric S Lander, Manolis Kellis
Publication date
2011/10/27
Journal
Nature
Volume
478
Issue
7370
Pages
476-482
Publisher
Nature Publishing Group UK
Description
The comparison of related genomes has emerged as a powerful lens for genome interpretation. Here we report the sequencing and comparative analysis of 29 eutherian genomes. We confirm that at least 5.5% of the human genome has undergone purifying selection, and locate constrained elements covering ∼4.2% of the genome. We use evolutionary signatures and comparisons with experimental data sets to suggest candidate functions for ∼60% of constrained bases. These elements reveal a small number of new coding exons, candidate stop codon readthrough events and over 10,000 regions of overlapping synonymous constraint within protein-coding exons. We find 220 candidate RNA structural families, and nearly a million elements overlapping potential promoter, enhancer and insulator regions. We report specific amino acid residues that have undergone positive selection, 280,000 non-coding …
Total citations
Scholar articles
K Lindblad-Toh, M Garber, O Zuk, MF Lin, BJ Parker… - Nature, 2011
K Lindblad-Toh, M Garber, O Zuk, MF Lin, BJ Parker… - Nature, 2011