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Article

Validation of genotype imputation in Southeast Asian populations and the effect of single nucleotide polymorphism annotation on imputation outcome.

BMC medical genetics - 13 Feb 2018

Lert-Itthiporn Worachart, Suktitipat Bhoom, Grove Harald, Sakuntabhai Anavaj, Malasit Prida, Tangthawornchaikul Nattaya, Matsuda Fumihiko, Suriyaphol Prapat

Abstract excerpt

BACKGROUND: Imputation involves the inference of untyped single nucleotide polymorphisms (SNPs) in genome-wide association studies. The haplotypic reference of choice for imputation in Southeast Asian populations is unclear. Moreover, the influence of SNP annotation on imputation results has not been examined. METHODS: This study was divided into two parts. In the first part, we applied imputation to genotyped...

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Identifiers

PMID: 29439659
DOI: 10.1186/s12881-018-0534-8
PMCID: PMC5812212

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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