Nature Biotechnology · 2014 · 303 citations · 35 references
Life SciencesGeneticsMolecular GeneticsGenomic Data AnalysisGenomicsMedical GeneticsDna SequencingGenome SequencingNext-generation SequencingVariant AnalysisVariant CallingVariant DetectionGenetic Variant DetectionNext-generation Sequencing GenotypingNext-generation Sequencing-based GenotypingPathogenic Variant Detection
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Fast and accurate short read alignment with Burrows–Wheeler transform
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An integrated map of genetic variation from 1,092 human genomes
dbSNP: the NCBI database of genetic variation
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