A linear complexity phasing method for thousands of genomes
O Delaneau, J Marchini, JF Zagury - Nature methods, 2012 - nature.com
O Delaneau, J Marchini, JF Zagury
Nature methods, 2012•nature.comHuman-disease etiology can be better understood with phase information about diploid
sequences. We present a method for estimating haplotypes, using genotype data from
unrelated samples or small nuclear families, that leads to improved accuracy and speed
compared to several widely used methods. The method, segmented haplotype estimation
and imputation tool (SHAPEIT), scales linearly with the number of haplotypes used in each
iteration and can be run efficiently on whole chromosomes.
sequences. We present a method for estimating haplotypes, using genotype data from
unrelated samples or small nuclear families, that leads to improved accuracy and speed
compared to several widely used methods. The method, segmented haplotype estimation
and imputation tool (SHAPEIT), scales linearly with the number of haplotypes used in each
iteration and can be run efficiently on whole chromosomes.
Abstract
Human-disease etiology can be better understood with phase information about diploid sequences. We present a method for estimating haplotypes, using genotype data from unrelated samples or small nuclear families, that leads to improved accuracy and speed compared to several widely used methods. The method, segmented haplotype estimation and imputation tool (SHAPEIT), scales linearly with the number of haplotypes used in each iteration and can be run efficiently on whole chromosomes.
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