Next-generation sequencing in routine brain tumor diagnostics enables an integrated diagnosis and identifies actionable targets

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

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

Kai Wang, Man Li, Håkon Håkonarson · Nucleic Acids Research · 2010 · 15.6K citations · Full text

Life Sciences, Bioinformatics, Genetics +17

Fast and accurate long-read alignment with Burrows–Wheeler transform

Heng Li, Richard Durbin · Bioinformatics · 2010 · 12.9K citations · Full text

Life Sciences, Bioinformatics, Biology +16

Hotspot Mutations in H3F3A and IDH1 Define Distinct Epigenetic and Biological Subgroups of Glioblastoma

Dominik Sturm, Hendrik Witt, Volker Hovestadt et al. · Cancer Cell · 2012 · 1.9K citations · Full text

Medicine, Genetics, Molecular Genetics +16

Integrating mapping-, assembly- and haplotype-based approaches for calling variants in clinical sequencing applications

Andy Rimmer, Hang Phan, Iain Mathieson et al. · Nature Genetics · 2014 · 1.2K citations · Full text

Life Sciences, Bioinformatics, Genetics +14