Edinburgh Research Explorer

Local exome sequences facilitate imputation of less common variants and increase power of genome wide association studies

Research output: Contribution to journalArticle

Related Edinburgh Organisations

Open Access permissions

Open

Documents

  • Download as Adobe PDF

    Rights statement: Copyright: © 2013 Joshi et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

    Final published version, 503 KB, PDF-document

http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0068604
Original languageEnglish
Article numbere68604
Number of pages6
JournalPLoS ONE
Volume8
Issue number7
DOIs
Publication statusPublished - 16 Jul 2013

Abstract

The analysis of less common variants in genome-wide association studies promises to elucidate complex trait genetics but is hampered by low power to reliably detect association. We show that addition of population-specific exome sequence data to global reference data allows more accurate imputation, particularly of less common SNPs (minor allele frequency 1-10%) in two very different European populations. The imputation improvement corresponds to an increase in effective sample size of 28-38%, for SNPs with a minor allele frequency in the range 1-3%.

Download statistics

No data available

ID: 8596438