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Rapid genotype refinement for whole-genome sequencing data using multi-variate normal distributions
Author(s) -
Rudy Arthur,
Jared O’Connell,
Ole Schulz-Trieglaff,
Anthony J. Cox
Publication year - 2016
Publication title -
bioinformatics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.599
H-Index - 390
eISSN - 1367-4811
pISSN - 1367-4803
DOI - 10.1093/bioinformatics/btw097
Subject(s) - computer science , source code , random variate , multivariate normal distribution , linkage disequilibrium , multivariate statistics , gaussian , linkage (software) , markov chain , algorithm , data mining , genotype , statistics , biology , machine learning , mathematics , genetics , haplotype , random variable , physics , quantum mechanics , gene , operating system
Whole-genome low-coverage sequencing has been combined with linkage-disequilibrium (LD)-based genotype refinement to accurately and cost-effectively infer genotypes in large cohorts of individuals. Most genotype refinement methods are based on hidden Markov models, which are accurate but computationally expensive. We introduce an algorithm that models LD using a simple multivariate Gaussian distribution. The key feature of our algorithm is its speed.

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