Using population-specific add-on polymorphisms to improve genotype imputation in underrepresented populations.

Détails

Ressource 1Télécharger: 35025869_BIB_3994C147BF6F.pdf (1887.24 [Ko])
Etat: Public
Version: Final published version
Licence: CC BY 4.0
ID Serval
serval:BIB_3994C147BF6F
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
Using population-specific add-on polymorphisms to improve genotype imputation in underrepresented populations.
Périodique
PLoS computational biology
Auteur⸱e⸱s
Xu Z.M., Rüeger S., Zwyer M., Brites D., Hiza H., Reinhard M., Rutaihwa L., Borrell S., Isihaka F., Temba H., Maroa T., Naftari R., Hella J., Sasamalo M., Reither K., Portevin D., Gagneux S., Fellay J.
ISSN
1553-7358 (Electronic)
ISSN-L
1553-734X
Statut éditorial
Publié
Date de publication
01/2022
Peer-reviewed
Oui
Volume
18
Numéro
1
Pages
e1009628
Langue
anglais
Notes
Publication types: Journal Article ; Research Support, Non-U.S. Gov't
Publication Status: epublish
Résumé
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.
Mots-clé
Computational Biology/methods, Genetics, Population/methods, Genetics, Population/standards, Genome-Wide Association Study/methods, Genome-Wide Association Study/standards, Genotype, Humans, Male, Polymorphism, Single Nucleotide/genetics, Tanzania
Pubmed
Open Access
Oui
Création de la notice
25/01/2022 8:27
Dernière modification de la notice
09/03/2023 7:50
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