Efficient genotype compression and analysis of large genetic-variation data sets
Author(s)
Layer, RM
Kindlon, N
Karczewski, KJ
Quinlan, AR
Type
Journal Article
Abstract
Genotype Query Tools (GQT) is an indexing strategy that expedites analyses of genome-variation data sets in Variant Call Format based on sample genotypes, phenotypes and relationships. GQT's compressed genotype index minimizes decompression for analysis, and its performance relative to that of existing methods improves with cohort size. We show substantial (up to 443-fold) gains in performance over existing methods and demonstrate GQT's utility for exploring massive data sets involving thousands to millions of genomes. GQT can be accessed at https://github.com/ryanlayer/gqt.
Date Issued
2015-11-09
Date Acceptance
2015-10-07
Citation
Nature Methods, 2015, 13 (1), pp.63-65
ISSN
1548-7091
Publisher
Nature Publishing Group
Start Page
63
End Page
65
Journal / Book Title
Nature Methods
Volume
13
Issue
1
Copyright Statement
Copyright © 2015, Rights Managed by Nature Publishing Group
Subjects
Science & Technology
Life Sciences & Biomedicine
Biochemical Research Methods
Biochemistry & Molecular Biology
FEATURES
Publication Status
Published