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Journal Articles BMC Medical Genetics Year : 2018

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

Abstract

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.
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pasteur-02003873 , version 1 (25-02-2019)

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Worachart Lert-Itthiporn, Bhoom Suktitipat, Harald Grove, Anavaj Sakuntabhai, Prida Malasit, et al.. Validation of genotype imputation in Southeast Asian populations and the effect of single nucleotide polymorphism annotation on imputation outcome. BMC Medical Genetics, 2018, 19 (1), pp.23. ⟨10.1186/s12881-018-0534-8⟩. ⟨pasteur-02003873⟩

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