Cell · 2012 · 586 citations · 46 references
Life SciencesGeneticsMolecular GeneticsAutism Spectrum DisordersGenomicsHuman GeneticsAutism Spectrum Disorder GeneticsGenetic DisordersGenome SequencingGermline Variant AnalysisNeurodevelopmental DisordersNeurogenetic DisordersDe Novo Mutation AnalysisDe Novo Mutation DetectionDisorder Hot SpotsGermline Variant ClassificationGermline Variant DetectionNeurodevelopmental Disorder MutationsWhole-genome Sequencing Analysis
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Fast and accurate short read alignment with Burrows–Wheeler transform
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A framework for variation discovery and genotyping using next-generation DNA sequencing data
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