Next-generation Genotype Imputation Service and Methods

Overview

Journal Nat Genet

Specialty Genetics

Date 2016 Aug 30

PMID 27571263

Citations 1953

Authors

Sayantan Das

Lukas Forer

Sebastian Schonherr

Carlo Sidore

Adam E Locke

Alan Kwong

Scott I Vrieze

Emily Y Chew

Shawn Levy

Matt McGue

David Schlessinger

Dwight Stambolian

Po-Ru Loh

William G Iacono

Anand Swaroop

Laura J Scott

Francesco Cucca

Florian Kronenberg

Michael Boehnke

Goncalo R Abecasis

Christian Fuchsberger

Affiliations

Soon will be listed here.

Abstract

Genotype imputation is a key component of genetic association studies, where it increases power, facilitates meta-analysis, and aids interpretation of signals. Genotype imputation is computationally demanding and, with current tools, typically requires access to a high-performance computing cluster and to a reference panel of sequenced genomes. Here we describe improvements to imputation machinery that reduce computational requirements by more than an order of magnitude with no loss of accuracy in comparison to standard imputation tools. We also describe a new web-based service for imputation that facilitates access to new reference panels and greatly improves user experience and productivity.

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