Article: Improving imputation quality in Samoans through the integration of population-specific sequences into existing reference panels.
medRxiv : the preprint server for health sciences
2023
Abstract: Genotype imputation is fundamental to association studies, and yet even gold standard panels like TOPMed are limited in the populations for which they yield good imputation. Specifically, Pacific Islanders are poorly represented in extant panels. To ... ...
Abstract | Genotype imputation is fundamental to association studies, and yet even gold standard panels like TOPMed are limited in the populations for which they yield good imputation. Specifically, Pacific Islanders are poorly represented in extant panels. To address this, we constructed an imputation reference panel using 1,285 Samoan individuals with whole-genome sequencing, combined with 1000 Genomes (1000G) samples, to create a reference panel that better represents Pacific Islander, specifically Samoan, genetic variation. We compared this panel to 1000G and TOPMed panels based on imputed variants using genotyping array data for 1,834 Samoan participants who were not part of the panels. The 1000G + 1285 Samoan panel yielded up to 2.25-2.76 times more well-imputed (r |
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Language | English |
Publishing date | 2023-10-31 |
Publishing country | United States |
Document type | Preprint |
DOI | 10.1101/2023.10.31.23297835 |
Database | MEDical Literature Analysis and Retrieval System OnLINE |
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