Concepedia

Expanding the clinical and molecular findings in RASA1 capillary malformation-arteriovenous malformation

Whitney Wooderchak‐Donahue, Peter Johnson, Jamie McDonald, Francine Blei, Alejandro Berenstein, Michelle Sorscher, Jennifer Mayer, Angela E. Scheuerle, Tracey Lewis, J. Fredrik Grimmer,

European Journal of Human Genetics · 2018 · 76 citations · 19 references

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19

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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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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REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants

Nilah M. Ioannidis, Joseph H. Rothstein, Vikas Pejaver et al. · The American Journal of Human Genetics · 2016 · 3K citations · Full text

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Mapping short DNA sequencing reads and calling variants using mapping quality scores

Heng Li, Jue Ruan, Richard Durbin · Genome Research · 2008 · 2.7K citations · Full text

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