Nature Genetics · 2013 · 219 citations · 43 references
MedicineGeneticsMolecular GeneticsMedical GeneticsPharmacogeneticsPharmacogenomicsGermline Variant AnalysisPharmacogenomic TestingPsoriatic ArthritisVariant AnalysisVariant InterpretationPathogenic Variant DetectionPreemptive Pharmacogenomic ScreeningVariant Prioritization
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Fast and accurate short read alignment with Burrows–Wheeler transform
Heng Li, Richard Durbin · Bioinformatics · 2009 · 62.8K citations · Full text
An integrated encyclopedia of DNA elements in the human genome