In:
PLOS Computational Biology, Public Library of Science (PLoS), Vol. 18, No. 1 ( 2022-1-13), p. e1009628-
Abstract:
Genome-wide association studies rely on the statistical inference of untyped variants, called imputation, to increase the coverage of genotyping arrays. However, the results are often suboptimal in populations underrepresented in existing reference panels and array designs, since the selected single nucleotide polymorphisms (SNPs) may fail to capture population-specific haplotype structures, hence the full extent of common genetic variation. Here, we propose to sequence the full genomes of a small subset of an underrepresented study cohort to inform the selection of population-specific add-on tag SNPs and to generate an internal population-specific imputation reference panel, such that the remaining array-genotyped cohort could be more accurately imputed. Using a Tanzania-based cohort as a proof-of-concept, we demonstrate the validity of our approach by showing improvements in imputation accuracy after the addition of our designed add-on tags to the base H3Africa array.
Type of Medium:
Online Resource
ISSN:
1553-7358
DOI:
10.1371/journal.pcbi.1009628
DOI:
10.1371/journal.pcbi.1009628.g001
DOI:
10.1371/journal.pcbi.1009628.g002
DOI:
10.1371/journal.pcbi.1009628.g003
DOI:
10.1371/journal.pcbi.1009628.g004
DOI:
10.1371/journal.pcbi.1009628.t001
DOI:
10.1371/journal.pcbi.1009628.t002
DOI:
10.1371/journal.pcbi.1009628.s001
DOI:
10.1371/journal.pcbi.1009628.s002
DOI:
10.1371/journal.pcbi.1009628.s003
DOI:
10.1371/journal.pcbi.1009628.s004
DOI:
10.1371/journal.pcbi.1009628.s005
DOI:
10.1371/journal.pcbi.1009628.s006
DOI:
10.1371/journal.pcbi.1009628.s007
DOI:
10.1371/journal.pcbi.1009628.s008
DOI:
10.1371/journal.pcbi.1009628.s009
DOI:
10.1371/journal.pcbi.1009628.s010
DOI:
10.1371/journal.pcbi.1009628.s011
DOI:
10.1371/journal.pcbi.1009628.s012
DOI:
10.1371/journal.pcbi.1009628.s013
DOI:
10.1371/journal.pcbi.1009628.r001
DOI:
10.1371/journal.pcbi.1009628.r002
DOI:
10.1371/journal.pcbi.1009628.r003
DOI:
10.1371/journal.pcbi.1009628.r004
DOI:
10.1371/journal.pcbi.1009628.r005
DOI:
10.1371/journal.pcbi.1009628.r006
Language:
English
Publisher:
Public Library of Science (PLoS)
Publication Date:
2022
detail.hit.zdb_id:
2193340-6
Bookmarklink