Nature Genetics · 2013 · 652 citations · 42 references
Life SciencesGeneticsMolecular BiologyGenomicsMolecular OncologyOncogenesCancer Genome SequencingCancer GenomicsGenome SequencingOncogene AmplificationOncogene MutationsOncogenic Signaling PathwaysMeningioma PathologyOncogenic Mutation Spectrum
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Fast and accurate short read alignment with Burrows–Wheeler transform
Heng Li, Richard Durbin · Bioinformatics · 2009 · 62.8K 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
Circos: An information aesthetic for comparative genomics
Martin Krzywinski, Jacqueline E. Schein, İnanç Birol et al. · Genome Research · 2009 · 11.9K citations · Full text
A map of human genome variation from population-scale sequencing