Nature Communications · 2014 · 180 citations · 36 references
Life SciencesGeneticsImmunologyImmunogeneticsPharmacogeneticsGenetic DisordersHla TypingHla Allele PolymorphismHla AllelesHla Genotype AssociationsHla Rare AllelesHla Risk AllelesHla-associated Adverse Drug ReactionsRare Hla Haplotypes
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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
Heng Li, Richard Durbin · Bioinformatics · 2009 · 62.8K citations · Full text
Haploview: analysis and visualization of LD and haplotype maps
Jeffrey C. Barrett, Ben Fry, Julian Maller et al. · Bioinformatics · 2004 · 14.7K citations · Full text
A framework for variation discovery and genotyping using next-generation DNA sequencing data
Mark A. DePristo, Eric Banks, Ryan Poplin et al. · Nature Genetics · 2011 · 12.4K citations · Full text