Nature Genetics · 2015 · 224 citations · 34 references
Life SciencesBioinformaticsGeneticsGenomic Data AnalysisGenomicsPopulation GeneticsHaplotype AnalysisMajor Histocompatibility ComplexPopulation GenomicsRead MappingVariant AnalysisVariant DetectionHaplotype InferenceHaplotype ReconstructionHaplotype-based InferenceHla AllelesHla Risk AllelesInference With Sequencing DataMhc GenotypingMhc Haplotypes
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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
Fast and accurate long-read alignment with Burrows–Wheeler transform
Heng Li, Richard Durbin · Bioinformatics · 2010 · 12.9K citations · Full text
An integrated map of genetic variation from 1,092 human genomes
A map of human genome variation from population-scale sequencing
A haplotype map of the human genome