The American Journal of Human Genetics · 2010 · 185 citations · 26 references
Life SciencesGeneticsMolecular GeneticsGenomicsHuman GeneticsMedical GeneticsDna SequencingFunctional GenomicsGenetic DisordersGenome SequencingRare Disease GeneticsRare Disease GenomicsExome SequencingExome Sequencing AnalysisRare Disease Gene DiscoveryWhole Exome Sequencing StudiesWhole-exome 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
Targeted capture and massively parallel sequencing of 12 human exomes
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Exome sequencing identifies the cause of a mendelian disorder
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