Concepedia

Phenotype of CM-AVM2 caused by variants in EPHB4: how much overlap with hereditary hemorrhagic telangiectasia (HHT)?

Whitney Wooderchak‐Donahue, Gülsen Akay, Kevin J. Whitehead, Eric Briggs, David A. Stevenson, Brendan O’Fallon, Matthew Velinder, Andrew Farrell, Wei Shen, Emma Bedoukian,

Genetics in Medicine · 2019 · 59 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

, , +17

SIFT: predicting amino acid changes that affect protein function

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

, , +17

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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Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome)

Claire L. Shovlin, Alan E. Guttmacher, Elisabetta Buscarini et al. · American Journal of Medical Genetics · 2000 · 1.7K citations

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