Accepted_test

Identification of the optimal reference panel for the imputation of genotype data from the Russian sample on the example of the RuDDS cohort

by Berdnikova Anna | Institute of Cytology and Genetics SB RAS, Novosibirsk, Russia

Abstract ID: 235

Event: BGRS-abstracts

Sections: [Sym 4] Section “Genome-wide association studies”

Imputation is a method that allows you to restore missing information about genetic variants that were not genotyped directly from DNA microarrays. Its main idea is to find haplotypes that are similar between the sample of interest (which is usually genotyped with DNA microarrays) and a reference sample (which has whole-genome sequencing data). Imputation of genotype data is an important step in genome wide association studies (GWAS) because it leads to a significant increase in the number of analyzed variants, which therefore improves the resolution of GWAS and enhances the comparability of the data obtained from diverse cohorts and/or different microarrays. In this study we aimed to test three most popular reference panels adapted for individuals of European descent (HRC, 1000 Genomes, TOPMed) to find an optimal reference panel for imputation of genotype data from Russian population (from the Russian Disc Degeneration Study). TOPMed reference panel was considered as the most optimal for imputation of genotype data from Russian sample