Science · 2017 · 195 citations · 63 references
Life SciencesGeneticsMolecular GeneticsGenomicsHost-pathogen InteractionsMolecular EvolutionAntigen Receptor Gene RearrangementBlood ParasitesMalariaParasite AntigensPathogen EvolutionPattern Recognition ReceptorsCell Surface ProteinsMalaria GenomicsMalaria ParasitesMalaria ResistancePlasmodium FalciparumPopulation Structural VariationSevere MalariaWhole-genome Sequence Analysis
hybrid genes, which encode a serologically distinct blood group antigen known as Dantu. This variant reduces the risk of severe malaria by 40% and has recently increased in frequency in parts of Kenya, yet it appears to be absent from west Africa. These findings link structural variation of red blood cell invasion receptors with natural resistance to severe malaria.
63
Fast and accurate short read alignment with Burrows–Wheeler transform
Heng Li, Richard Durbin · Bioinformatics · 2009 · 62.8K citations · Full text
BEDTools: a flexible suite of utilities for comparing genomic features
Aaron R. Quinlan, Ira M. Hall · Bioinformatics · 2010 · 30.4K citations · Full text
A global reference for human genetic variation
Richard Durbin, Peter Donnelly, Paul Flicek et al. · Nature · 2015 · 20K 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