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Article

A diverse ancestrally-matched reference panel increases genotype imputation accuracy in a underrepresented population.

Scientific reports - 31 Jul 2023

Mauleekoonphairoj John, Tongsima Sissades, Khongphatthanayothin Apichai, Jurgens Sean J, Zimmerman Dominic S, Sutjaporn Boosamas, Wandee Pharawee, Bezzina Connie R, Nademanee Koonlawee, Poovorawan Yong

Abstract excerpt

Variant imputation, a common practice in genome-wide association studies, relies on reference panels to infer unobserved genotypes. Multiple public reference panels are currently available with variations in size, sequencing depth, and represented populations. Currently, limited data exist regarding the performance of public reference panels when used in an imputation of populations underrepresented in the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 37524845
DOI: 10.1038/s41598-023-39429-3
PMCID: PMC10390539

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