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Article Dans Une Revue BMC Medical Genetics Année : 2018

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

Résumé

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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Dates et versions

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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