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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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Submitted on : Monday, February 25, 2019 - 10:21:28 AM
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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, BioMed Central, 2018, 19 (1), pp.23. ⟨10.1186/s12881-018-0534-8⟩. ⟨pasteur-02003873⟩

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