Next-generation genotype imputation service and methods

Nat Genet. 2016 Oct;48(10):1284-1287. doi: 10.1038/ng.3656. Epub 2016 Aug 29.

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.

Publication types

  • Research Support, N.I.H., Intramural
  • Research Support, Non-U.S. Gov't
  • Research Support, N.I.H., Extramural

MeSH terms

  • Algorithms*
  • Computer Simulation
  • Genome-Wide Association Study
  • Genotype*
  • Haplotypes
  • Humans
  • Internet