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.

Next-generation genotype imputation service and methods

Sidore Carlo;Cucca Francesco;
2016

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.
2016
Istituto di Ricerca Genetica e Biomedica - IRGB
Inglese
48
10
1284
1287
http://www.scopus.com/record/display.url?eid=2-s2.0-84984598118&origin=inward
gwas
imputation
21
info:eu-repo/semantics/article
262
Das, Sayantan; Forer, Lukas; Schönherr, Sebastian; Sidore, Carlo; Locke Adam, E; Kwong, Alan; Vrieze Scott, I; Chew Emily, Y; Levy, Shawn; Mcgue, Matt...espandi
01 Contributo su Rivista::01.01 Articolo in rivista
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/20.500.14243/422131
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