DOI: 10.1101/493403Dec 13, 2018Paper

Integrative haplotype estimation with sub-linear complexity

BioRxiv : the Preprint Server for Biology
Olivier DelaneauEmmanouil Dermitzakis

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 new method, SHAPEIT4, which substantially improves upon other methods to process large genotype and high coverage sequencing datasets. It notably exhibits sub-linear scaling 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 SHAPET4 in an open source format on https://odelaneau.github.io/shapeit4/ 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.

Related Concepts

Genome
Linear Nucleus

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