Article

Accurate rare variant phasing of whole-genome and whole-exome sequencing data in the UK Biobank

2022-10-21

Abstract excerpt

The UK Biobank performed whole-genome sequencing (WGS) and whole-exome sequencing (WES) across hundreds of thousands of individuals, allowing researchers to study the effects of both common and rare variants. Haplotype phasing distinguishes the two inherited copies of each chromosome into haplotypes and unlocks novel analyses at the haplotype level. In this work, we describe a new phasing method, SHAPEIT5, that ac...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 40904fc6-6db8-5f3f-8b75-ebed8d0c14b7
DOI: 10.1101/2022.10.19.512867

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Accurate rare variant phasing of whole-genome and whole-exome sequencing data in the UK BiobankDOI 10.1101/2022.10.19.512867Read

Accurate rare variant phasing of whole-genome and whole-exome sequencing data in the UK BiobankSemantic proximity Read

Accurate rare variant phasing of whole-genome and whole-exome sequencing data in the UK Biobank.Semantic proximity Read

Complete genome phasing of family quartet by combination of genetic, physical and population-based phasing analysis.Semantic proximity Read

Fast two-stage phasing of large-scale sequence data.Semantic proximity Read

Exome sequencing and characterization of 49,960 individuals in the UK Biobank.Semantic proximity Read

Statistical phasing of 150,119 sequenced genomes in the UK Biobank.Semantic proximity Read

Exome-wide evidence of compound heterozygous effects across common phenotypes in the UK BiobankSemantic proximity Read

Improving population scale statistical phasing with whole-genome sequencing data.Semantic proximity Read

The sequences of 150,119 genomes in the UK biobankSemantic proximity Read

Phasing millions of samples achieves near perfect accuracy, enabling parent-of-origin analyses.Semantic proximity Read

Whole-genome sequencing of patients with rare diseases in a national health system.Semantic proximity Read

Advancing Human Genetics Research and Drug Discovery through Exome Sequencing of the UK BiobankSemantic proximity Read