Concepedia

BMP9 Mutations Cause a Vascular-Anomaly Syndrome with Phenotypic Overlap with Hereditary Hemorrhagic Telangiectasia

Whitney Wooderchak‐Donahue, Jamie McDonald, Brendan O’Fallon, Paul D. Upton, Wei Li, Beth L. Roman, Sarah P. Young, Parker Plant, Gyula T. Fülöp, Carmen Langa,

The American Journal of Human Genetics · 2013 · 306 citations · 29 references

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29

Fast and accurate short read alignment with Burrows–Wheeler transform

Heng Li, Richard Durbin · Bioinformatics · 2009 · 62.8K citations · Full text

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The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

Aaron McKenna, Matthew G. Hanna, Eric Banks et al. · Genome Research · 2010 · 30K citations · Full text

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SIFT: predicting amino acid changes that affect protein function

P.C. Ng · Nucleic Acids Research · 2003 · 6.9K citations · Full text

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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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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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