Repository logo

Infoscience

  • English
  • French
Log In
Logo EPFL, École polytechnique fédérale de Lausanne

Infoscience

  • English
  • French
Log In
  1. Home
  2. Academic and Research Output
  3. Journal articles
  4. Using population-specific add-on polymorphisms to improve genotype imputation in underrepresented populations
 
research article

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

Xu, Zhi Ming
•
Rueger, Sina
•
Zwyer, Michaela
Show more
January 1, 2022
Plos Computational Biology

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.

  • Details
  • Metrics
Type
research article
DOI
10.1371/journal.pcbi.1009628
Web of Science ID

WOS:001084590400006

Author(s)
Xu, Zhi Ming
Rueger, Sina
Zwyer, Michaela
Brites, Daniela
Hiza, Hellen
Reinhard, Miriam
Rutaihwa, Liliana
Borrell, Sonia
Isihaka, Faima
Temba, Hosiana
Show more
Date Issued

2022-01-01

Publisher

Public Library Science

Published in
Plos Computational Biology
Volume

18

Issue

1

Article Number

e1009628

Subjects

Life Sciences & Biomedicine

•

Genetic Architecture

•

Association

•

Framework

•

Inference

•

Selection

•

Sequence

•

Map

Editorial or Peer reviewed

REVIEWED

Written at

EPFL

EPFL units
UPFELLAY  
FunderGrant Number

Swiss National Science Foundation

CRSII5_177163

European Research Council

883582

European Research Council (ERC)

883582

Show more
Available on Infoscience
February 16, 2024
Use this identifier to reference this record
https://infoscience.epfl.ch/handle/20.500.14299/203874
Logo EPFL, École polytechnique fédérale de Lausanne
  • Contact
  • infoscience@epfl.ch

  • Follow us on Facebook
  • Follow us on Instagram
  • Follow us on LinkedIn
  • Follow us on X
  • Follow us on Youtube
AccessibilityLegal noticePrivacy policyCookie settingsEnd User AgreementGet helpFeedback

Infoscience is a service managed and provided by the Library and IT Services of EPFL. © EPFL, tous droits réservés