A high-resolution map of human evolutionary constraint using 29 mammals

@article{LindbladToh2011AHM,
  title={A high-resolution map of human evolutionary constraint using 29 mammals},
  author={Kerstin Lindblad-Toh and Manuel Garber and Or Zuk and Michael F. Lin and Brian J. Parker and Stefan Washietl and Pouya Kheradpour and Jason Ernst and Gregory E. Jordan and Evan Mauceli and Lucas D. Ward and Craig B. Lowe and Alisha K. Holloway and Michele E. Clamp and Sante Gnerre and Jessica Alfoldi and Kathryn Beal and Jean L. Chang and Hiram Clawson and James A. Cuff and Federica Di Palma and Stephen Fitzgerald and Paul Flicek and Mitchell Guttman and Melissa J. Hubisz and David B. Jaffe and Irwin Jungreis and W. James Kent and Dennis Kostka and Marcia Lara and Andr{\'e} L. Martins and Tim Massingham and Ida Moltke and Brian J. Raney and Matthew D. Rasmussen and Jim Robinson and Alexander Stark and Albert J. Vilella and Jiayu Wen and Xiaohui S. Xie and Michael C. Zody and Kim C. Worley and Christie L. Kovar and Donna M. Muzny and Richard A. Gibbs and Wesley C. Warren and Elaine R. Mardis and George M. Weinstock and Richard K. Wilson and Ewan Birney and Elliott H. Margulies and Javier Herrero and Eric D. Green and David Haussler and Adam C. Siepel and Nick Goldman and Katherine S. Pollard and Jakob Skou Pedersen and Eric S. Lander and Manolis Kellis},
  journal={Nature},
  year={2011},
  volume={478},
  pages={476 - 482}
}
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… 
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