Population-specific genotype imputations using minimac or IMPUTE2

In order to meaningfully analyze common and rare genetic variants, results from genome-wide association studies (GWASASs) of multiple cohorts need to be combined in a meta-analysis in order to obtain enough power. This requires all cohorts to have the same single-nucleotide polymorphisms (SNPSNPSNPs) in their GWASASs. To this end, genotypes that have not been measured in a given cohort can be imputed on the basis of a set of reference haplotypes. This protocol provides guidelines for performing imputations with two widely used tools: minimac and IMPUTEPUTEPUTEPUTE2. These guidelines were devel... Mehr ...

Verfasser: van Leeuwen, Elisabeth M.
Kanterakis, Alexandros
Deelen, Patrick
Kattenberg, Mathijs V.
Slagboom, P. Eline
de Bakker, Paul I. W.
Wijmenga, Cisca
Swertz, Morris A.
Boomsma, Dorret I.
van Duijn, Cornelia M.
Karssen, Lennart C.
Hottenga, Jouke Jan
Dokumenttyp: Artikel
Erscheinungsdatum: 2015
Reihe/Periodikum: van Leeuwen , E M , Kanterakis , A , Deelen , P , Kattenberg , M V , Slagboom , P E , de Bakker , P I W , Wijmenga , C , Swertz , M A , Boomsma , D I , van Duijn , C M , Karssen , L C , Hottenga , J J & Genome Netherlands Consortium 2015 , ' Population-specific genotype imputations using minimac or IMPUTE2 ' , Nature protocols , vol. 10 , no. 9 , pp. 1285-1296 . https://doi.org/10.1038/nprot.2015.077
Schlagwörter: GENOME-WIDE ASSOCIATION / GENETIC-VARIATION / QUALITY-CONTROL / LOW-FREQUENCY / NETHERLANDS / VARIANTS / SEQUENCE / FORMAT / COMMON / SETS
Sprache: Englisch
Permalink: https://search.fid-benelux.de/Record/base-28779868
Datenquelle: BASE; Originalkatalog
Powered By: BASE
Link(s) : https://hdl.handle.net/11370/bfdc749f-207d-4d53-bf86-32fcf8a97185

In order to meaningfully analyze common and rare genetic variants, results from genome-wide association studies (GWASASs) of multiple cohorts need to be combined in a meta-analysis in order to obtain enough power. This requires all cohorts to have the same single-nucleotide polymorphisms (SNPSNPSNPs) in their GWASASs. To this end, genotypes that have not been measured in a given cohort can be imputed on the basis of a set of reference haplotypes. This protocol provides guidelines for performing imputations with two widely used tools: minimac and IMPUTEPUTEPUTEPUTE2. These guidelines were developed and used by the Genome of the Netherlands (GoNL) consortium, which has created a population-specific reference panel for genetic imputations and used this reference to impute various Dutch biobanks. We also describe several factors that might influence the final imputation quality. This protocol, which has been used by the largest Dutch biobanks, should take approximately several days, depending on the sample size of the biobank and the computer resources available.