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Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants

Wenqing Fu, Timothy D. O’Connor, Goo Jun, Hyun Min Kang, Gonçalo R. Abecasis, Suzanne M. Leal, Stacey Gabriel, Mark J. Rieder, David Altshuler, Jay Shendure,

Nature · 2012 · 1K citations · 21 references

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21

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

P. Naresh Kumar, Steven Henikoff, Pauline C. Ng · Nature Protocols · 2009 · 6.7K citations

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Detection of nonneutral substitution rates on mammalian phylogenies

Katherine S. Pollard, Melissa J. Hubisz, Kate R. Rosenbloom et al. · Genome Research · 2009 · 2.5K citations · Full text

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Inferring the Joint Demographic History of Multiple Populations from Multidimensional SNP Frequency Data

Ryan N. Gutenkunst, Ryan D. Hernandez, Scott Williamson et al. · PLoS Genetics · 2009 · 2.2K citations · Full text

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Identifying a High Fraction of the Human Genome to be under Selective Constraint Using GERP++

Eugene Davydov, David L. Goode, Marina Sirota et al. · PLoS Computational Biology · 2010 · 1.9K citations · Full text

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Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes

Jacob A. Tennessen, Abigail W. Bigham, Timothy D. O’Connor et al. · Science · 2012 · 1.7K citations

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