SequencErr: measuring and suppressing sequencer errors in next-generation sequencing data

Fast and accurate short read alignment with Burrows–Wheeler transform

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

Base-Calling of Automated Sequencer Traces Using <i>Phred.</i> II. Error Probabilities

Brent Ewing, Phil Green · Genome Research · 1998 · 5.5K citations · Full text

Engineering, Genetics, Molecular Genetics +22

Detection and localization of surgically resectable cancers with a multi-analyte blood test

Joshua D. Cohen, Lu Li, Yuxuan Wang et al. · Science · 2018 · 2.7K citations

Surgical Oncology, Engineering, Blood Test +23

A comprehensive catalogue of somatic mutations from a human cancer genome

Erin Pleasance, R. Keira Cheetham, Philip J. Stephens et al. · Nature · 2009 · 1.7K citations · Full text

LoFreq: a sequence-quality aware, ultra-sensitive variant caller for uncovering cell-population heterogeneity from high-throughput sequencing datasets

Andreas Wilm, Pauline Aw, Denis Bertrand et al. · Nucleic Acids Research · 2012 · 1.5K citations · Full text

Engineering, Genetics, Pathology +22