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Accurate, scalable and integrative haplotype estimation.

Abstract：

:The number of human genomes being genotyped or sequenced increases exponentially and efficient haplotype estimation methods able to handle this amount of data are now required. Here we present a method, SHAPEIT4, which substantially improves upon other methods to process large genotype and high coverage sequencing datasets. It notably exhibits sub-linear running times with sample size, provides highly accurate haplotypes and allows integrating external phasing information such as large reference panels of haplotypes, collections of pre-phased variants and long sequencing reads. We provide SHAPEIT4 in an open source format and demonstrate its performance in terms of accuracy and running times on two gold standard datasets: the UK Biobank data and the Genome In A Bottle.

journal_name

Nat Commun

journal_title

Nature communications

authors

Delaneau O,Zagury JF,Robinson MR,Marchini JL,Dermitzakis ET

doi

10.1038/s41467-019-13225-y

subject

Has Abstract

pub_date

2019-11-28 00:00:00

pages

5436

issue

1

issn

2041-1723

pii

10.1038/s41467-019-13225-y

journal_volume

10

pub_type

杂志文章

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