Exome sequencing identifies MVK mutations in disseminated superficial actinic porokeratosis

Fast and accurate short read alignment with Burrows–Wheeler transform

Heng Li, Richard Durbin · Bioinformatics · 2009 · 60.7K citations · Full text

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 · 28.9K citations · Full text

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

Kai Wang, Man Li, Håkon Håkonarson · Nucleic Acids Research · 2010 · 15.1K citations · Full text

Genetics, Genomics, Genetic Medicine +22

SOAP2: an improved ultrafast tool for short read alignment

Ruiqiang Li, Chang Yu, Yingrui Li et al. · Bioinformatics · 2009 · 3.9K citations

SOAP: short oligonucleotide alignment program

Ruiqiang Li, Yingrui Li, Karsten Kristiansen et al. · Bioinformatics · 2008 · 3.6K citations · Full text