Ontology highlight
ABSTRACT:
SUBMITTER: Xu J
PROVIDER: S-EPMC10793543 | biostudies-literature | 2023 Dec
REPOSITORIES: biostudies-literature
Xu Jiayi J Liu Dongjing D Hassan Arsalan A Genovese Giulio G Cote Alanna C AC Fennessy Brian B Cheng Esther E Charney Alexander W AW Knowles James A JA Ayub Muhammad M Peterson Roseann E RE Bigdeli Tim B TB Huckins Laura M LM
medRxiv : the preprint server for health sciences 20231226
Genotype imputation is crucial for GWAS, but reference panels and existing benchmarking studies prioritize European individuals. Consequently, it is unclear which publicly available reference panel should be used for Pakistani individuals, and whether ancestry composition or sample size of the panel matters more for imputation accuracy. Our study compared different reference panels to impute genotype data in 1814 Pakistani individuals, finding the best performance balancing accuracy and coverage ...[more]