TY - JOUR
T1 - GIGI-Quick
T2 - A fast approach to impute missing genotypes in genome-wide association family data
AU - Kunji, Khalid
AU - Ullah, Ehsan
AU - Nato, Alejandro Q.
AU - Wijsman, Ellen M.
AU - Saad, Mohamad
N1 - Publisher Copyright:
© The Author(s) 2017. Published by Oxford University Press. All rights reserved. For Permissions, please e-mail: [email protected].
PY - 2018/5/1
Y1 - 2018/5/1
N2 - Genome-wide association studies have become common over the last ten years, with a shift towards targeting rare variants, especially in pedigree-data. Despite lower costs, sequencing for rare variants still remains expensive. To have a relatively large sample with acceptable cost, imputation approaches may be used, such as GIGI for pedigree data. GIGI is an imputation method that handles large pedigrees and is particularly good for rare variant imputation. GIGI requires a subset of individuals in a pedigree to be fully sequenced, while other individuals are sequenced only at relevant markers. The imputation will infer the missing genotypes at untyped markers. Running GIGI on large pedigrees for large numbers of markers can be very time consuming. We present GIGI-Quick as a method to efficiently split GIGI's input, run GIGI in parallel and efficiently merge the output to reduce the runtime with the number of cores. This allows obtaining imputation results faster, and therefore all subsequent association analyses. Availability and and implementation GIGI-Quick is open source and publicly available via: https://cse-git.qcri.org/Imputation/GIGI-Quick. Contact [email protected] Supplementary informationSupplementary dataare available at Bioinformatics online.
AB - Genome-wide association studies have become common over the last ten years, with a shift towards targeting rare variants, especially in pedigree-data. Despite lower costs, sequencing for rare variants still remains expensive. To have a relatively large sample with acceptable cost, imputation approaches may be used, such as GIGI for pedigree data. GIGI is an imputation method that handles large pedigrees and is particularly good for rare variant imputation. GIGI requires a subset of individuals in a pedigree to be fully sequenced, while other individuals are sequenced only at relevant markers. The imputation will infer the missing genotypes at untyped markers. Running GIGI on large pedigrees for large numbers of markers can be very time consuming. We present GIGI-Quick as a method to efficiently split GIGI's input, run GIGI in parallel and efficiently merge the output to reduce the runtime with the number of cores. This allows obtaining imputation results faster, and therefore all subsequent association analyses. Availability and and implementation GIGI-Quick is open source and publicly available via: https://cse-git.qcri.org/Imputation/GIGI-Quick. Contact [email protected] Supplementary informationSupplementary dataare available at Bioinformatics online.
UR - https://www.scopus.com/pages/publications/85047059935
U2 - 10.1093/bioinformatics/btx782
DO - 10.1093/bioinformatics/btx782
M3 - Article
C2 - 29267877
AN - SCOPUS:85047059935
SN - 1367-4803
VL - 34
SP - 1591
EP - 1593
JO - Bioinformatics
JF - Bioinformatics
IS - 9
ER -