article Open AccessTop 1% cited

A framework for variation discovery and genotyping using next-generation DNA sequencing data

Nature Genetics · 2011 · Vol. 43(5) · pp. 491–498

Mark A. DePristo✉(Broad Institute)Eric Banks(Broad Institute)Ryan Poplin(Broad Institute)Kiran Garimella(Broad Institute)Jared Maguire(Broad Institute)Christopher Hartl(Broad Institute)Anthony Philippakis(Broad Institute)Guillermo del Angel(Broad Institute)Manuel A. Rivas(Broad Institute)Matt Hanna(Broad Institute)Aaron McKenna(Broad Institute)Tim Fennell(Broad Institute)Andrew Kernytsky(Broad Institute)Andrey Sivachenko(Broad Institute)Kristian Cibulskis(Broad Institute)Stacey Gabriel(Broad Institute)David Altshuler(Harvard University)Mark J. Daly(Harvard University)

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Genomics and Phylogenetic Studies Genomics and Rare Diseases Genetic Associations and EpidemiologyBiologyIndelGenotypingDNA sequencingExome sequencingExomeGenome1000 Genomes ProjectComputational biologyHuman genome

MeSH terms

Data Interpretation, StatisticalExonsGenetics, PopulationGenotypeHumansSoftwareGenetic VariationGenome, HumanSequence AlignmentSequence Analysis, DNAPolymorphism, Single NucleotideDatabases, Nucleic Acid

Citations

12,243

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191.37

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