dc.contributor.author | Mitt, Mario | |
dc.contributor.author | Kals, Mart | |
dc.contributor.author | Pärn, Kalle | |
dc.contributor.author | Ripatti, Samuli | |
dc.contributor.author | Morris, Andrew P | |
dc.contributor.author | Metspalu, Andres | |
dc.contributor.author | Esko, Tõnu | |
dc.contributor.author | Mägi, Reedik | |
dc.contributor.author | Palta, Priit | |
dc.contributor.author | Gabriel, Stacey | |
dc.contributor.author | Lander, Eric Steven | |
dc.contributor.author | Palotie, Aarno | |
dc.date.accessioned | 2018-06-29T16:08:14Z | |
dc.date.available | 2018-06-29T16:08:14Z | |
dc.date.issued | 2017-04 | |
dc.date.submitted | 2016-12 | |
dc.identifier.issn | 1018-4813 | |
dc.identifier.issn | 1476-5438 | |
dc.identifier.uri | http://hdl.handle.net/1721.1/116697 | |
dc.description.abstract | Genetic imputation is a cost-efficient way to improve the power and resolution of genome-wide association (GWA) studies. Current publicly accessible imputation reference panels accurately predict genotypes for common variants with minor allele frequency (MAF)≥5% and low-frequency variants (0.5≤MAF<5%) across diverse populations, but the imputation of rare variation (MAF<0.5%) is still rather limited. In the current study, we evaluate imputation accuracy achieved with reference panels from diverse populations with a population-specific high-coverage (30 ×) whole-genome sequencing (WGS) based reference panel, comprising of 2244 Estonian individuals (0.25% of adult Estonians). Although the Estonian-specific panel contains fewer haplotypes and variants, the imputation confidence and accuracy of imputed low-frequency and rare variants was significantly higher. The results indicate the utility of population-specific reference panels for human genetic studies. | en_US |
dc.publisher | Nature Publishing Group | en_US |
dc.relation.isversionof | http://dx.doi.org/10.1038/EJHG.2017.51 | en_US |
dc.rights | Creative Commons Attribution-NonCommercial 4.0 International | en_US |
dc.rights.uri | http://creativecommons.org/licenses/by-nc/4.0/ | en_US |
dc.source | Nature | en_US |
dc.title | Improved imputation accuracy of rare and low-frequency variants using population-specific high-coverage WGS-based imputation reference panel | en_US |
dc.type | Article | en_US |
dc.identifier.citation | Mitt, Mario et al. “Improved Imputation Accuracy of Rare and Low-Frequency Variants Using Population-Specific High-Coverage WGS-Based Imputation Reference Panel.” European Journal of Human Genetics 25, 7 (April 2017): 869–876 © 2017 The Author(s) | en_US |
dc.contributor.department | Broad Institute of MIT and Harvard | en_US |
dc.contributor.department | Massachusetts Institute of Technology. Department of Biology | en_US |
dc.contributor.mitauthor | Gabriel, Stacey | |
dc.contributor.mitauthor | Lander, Eric Steven | |
dc.contributor.mitauthor | Palotie, Aarno | |
dc.relation.journal | European Journal of Human Genetics | en_US |
dc.eprint.version | Final published version | en_US |
dc.type.uri | http://purl.org/eprint/type/JournalArticle | en_US |
eprint.status | http://purl.org/eprint/status/PeerReviewed | en_US |
dc.date.updated | 2018-06-28T13:23:36Z | |
dspace.orderedauthors | Mitt, Mario; Kals, Mart; Pärn, Kalle; Gabriel, Stacey B; Lander, Eric S; Palotie, Aarno; Ripatti, Samuli; Morris, Andrew P; Metspalu, Andres; Esko, Tõnu; Mägi, Reedik; Palta, Priit | en_US |
dspace.embargo.terms | N | en_US |
mit.license | PUBLISHER_CC | en_US |