Accurate, Scalable and Integrative Haplotype Estimation

Overview

Journal Nat Commun

Specialty Biology

Date 2019 Nov 30

PMID 31780650

Citations 249

Authors

Olivier Delaneau

Jean-Francois Zagury

Matthew R Robinson

Jonathan L Marchini

Emmanouil T Dermitzakis

Affiliations

Soon will be listed here.

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.

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