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A statistical framework for SNP calling, mutation discovery, association mapping and population genetical parameter estimation from sequencing data

Bioinformatics · 2011 · Vol. 27(21) · pp. 2987–2993
Heng Li

Abstract

[email protected].

Genetic Associations and EpidemiologyGenomics and Rare DiseasesGenomics and Phylogenetic StudiesImputation (statistics)GenotypingBiologyComputational biologyGeneticsDNA sequencing1000 Genomes ProjectAllele frequencyPopulationGenetic association

MeSH terms

AllelesData Interpretation, StatisticalGene FrequencyGenetics, PopulationGenotypeHumansMutationSequence Analysis, DNAPolymorphism, Single NucleotideGenetic Association Studies
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References
Algorithms for Minimization Without Derivatives
Mathematics of Computation · 1974 · 2,934 citations
Score Tests for Association between Traits and Haplotypes when Linkage Phase Is Ambiguous
The American Journal of Human Genetics · 2002 · 1,793 citations
The Sequence Alignment/Map format and SAMtools
Bioinformatics · 2009 · 66,208 citations
The variant call format and VCFtools
Bioinformatics · 2011 · 17,263 citations
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