High-throughput sequencing of the entire genomic regions of CCM1/KRIT1, CCM2 and CCM3/PDCD10 to search for pathogenic deep-intronic splice mutations in cerebral cavernous malformations

Fast and accurate short read alignment with Burrows–Wheeler transform

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

Life Sciences, Bioinformatics, Biology +12

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

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Life Sciences, Bioinformatics, Genetics +17

The human splicing code reveals new insights into the genetic determinants of disease

Hui Xiong, Babak Alipanahi, Leo J. Lee et al. · Science · 2014 · 1.3K citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Genome sequencing identifies major causes of severe intellectual disability

Christian Gilissen, Jayne Y. Hehir‐Kwa, Djie Tjwan Thung et al. · Nature · 2014 · 1.1K citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Genomic variant annotation and prioritization with ANNOVAR and wANNOVAR

Hui Yang, Kai Wang · Nature Protocols · 2015 · 882 citations · Full text

Life Sciences, Bioinformatics, Genetics +12