Journal of Molecular Diagnostics · 2012 · 77 citations · 28 references
Life SciencesGeneticsMolecular GeneticsGenomic Data AnalysisGenomicsMolecular OncologyDna SequencingMutation AnalysisNext-generation SequencingNext-generation Sequencing In OncologyVariant AnalysisVariant DetectionClinical Next-generation SequencingGenetic Mutation DetectionMultiplex Mutation ScreeningNext-generation Sequencing AssaysNext-generation Sequencing-based DetectionTargeted Mutation DetectionTargeted Next-generation SequencingTargeted Sequencing
28
The Sequence Alignment/Map format and SAMtools
Heng Li, Alec Wysoker, Tim Fennell et al. · Bioinformatics · 2009 · 67.5K citations · Full text
A framework for variation discovery and genotyping using next-generation DNA sequencing data
Mark A. DePristo, Eric Banks, Ryan Poplin et al. · Nature Genetics · 2011 · 12.4K citations · Full text
Genome sequencing in microfabricated high-density picolitre reactors
Marcel Margulies, William E. Altman, Said Attiya et al. · Nature · 2005 · 7.7K citations · Full text
Inhibition of Poly(ADP-Ribose) Polymerase in Tumors from <i>BRCA</i> Mutation Carriers
Peter C.C. Fong, David S. Boss, Timothy A. Yap et al. · New England Journal of Medicine · 2009 · 3.6K citations · Full text
Medicine, Oncology, Pharmacology +17