Journal of genetics and genomics/Journal of Genetics and Genomics · 2018 · 51 citations · 53 references
Life SciencesGeneticsMolecular GeneticsAutism Spectrum DisordersGenomicsNeurogeneticsAutism Spectrum Disorder GeneticsGenetic DisordersGenome SequencingNeurodevelopmental DisordersNeurodevelopmental GeneticsPsychiatric GeneticsAutism Spectrum Disorder Copy Number VariantsNeurodevelopmental Copy Number VariantsPsychiatric GenomicsWhole-genome Sequencing Analysis
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The Sequence Alignment/Map format and SAMtools
Heng Li, Alec Wysoker, Tim Fennell et al. · Bioinformatics · 2009 · 67.5K citations · Full text
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