4.8 Article

Next-generation genotype imputation service and methods

Journal

NATURE GENETICS
Volume 48, Issue 10, Pages 1284-1287

Publisher

NATURE PORTFOLIO
DOI: 10.1038/ng.3656

Keywords

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Funding

  1. National Institutes of Health [HG007022, HL117626, HG000376, R01DA037904]
  2. Austrian Science Fund (FWF) [J-3401]
  3. European Community [602133]
  4. Intramural Research Program of the National Institute on Aging, National Institutes of Health

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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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