Efficient genotype compression and analysis of large genetic variation datasets

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Efficient genotype compression and analysis of large genetic variation datasets

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Title: Efficient genotype compression and analysis of large genetic variation datasets
Author: Layer, Ryan M.; Kindlon, Neil; Karczewski, Konrad J.; Quinlan, Aaron R.

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Citation: Layer, Ryan M., Neil Kindlon, Konrad J. Karczewski, and Aaron R. Quinlan. 2015. “Efficient genotype compression and analysis of large genetic variation datasets.” Nature methods 13 (1): 63-65. doi:10.1038/nmeth.3654. http://dx.doi.org/10.1038/nmeth.3654.
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Abstract: Genotype Query Tools (GQT) is a new indexing strategy that expedites analyses of genome variation datasets in VCF format based on sample genotypes, phenotypes and relationships. GQT’s compressed genotype index minimizes decompression for analysis, and performance relative to existing methods improves with cohort size. We show substantial (up to 443 fold) performance gains over existing methods and demonstrate GQT’s utility for exploring massive datasets involving thousands to millions of genomes.
Published Version: doi:10.1038/nmeth.3654
Other Sources: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4697868/pdf/
Terms of Use: This article is made available under the terms and conditions applicable to Other Posted Material, as set forth at http://nrs.harvard.edu/urn-3:HUL.InstRepos:dash.current.terms-of-use#LAA
Citable link to this page: http://nrs.harvard.edu/urn-3:HUL.InstRepos:27320241
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