Publication:
Efficient genotype compression and analysis of large genetic variation datasets

Thumbnail Image

Date

2015

Published Version

Journal Title

Journal ISSN

Volume Title

Publisher

The Harvard community has made this article openly available. Please share how this access benefits you.

Research Projects

Organizational Units

Journal Issue

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.

Research Data

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.

Description

Keywords

Terms of Use

This article is made available under the terms and conditions applicable to Other Posted Material (LAA), as set forth at Terms of Service

Endorsement

Review

Supplemented By

Referenced By

Related Stories