Cell · 2012 · 573 citations · 46 references
Whole-genome SequencingSequencingSyndromic AutismNext-generation SequencingGeneticsAutismDisease Gene IdentificationGenomicsSystems BiologyMedicineBioinformaticsNeurodiversity
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Fast and accurate short read alignment with Burrows–Wheeler transform
Heng Li, Richard Durbin · Bioinformatics · 2009 · 60.7K 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 · 12.1K citations · Full text
Dna Sequencing, Sequencing, Medicine +14