Skip to content

skaur9/Imputation-using-1000G-and-HRC

Repository files navigation

Imputation using 1000G and HRC reference panel

This repository explains the steps involved in Whole Genome Imputation using 1000G as reference panel

Fine Mapping

Imputation provides a higher-resolution view of a genetic region by adding more variants, thereby increasing the chances of identifying a causal variant.

Meta-Analysis

Imputation also helps in meta-analysis by facilitating the combination of results across studies. Different studies often use different genotyping arrays containing different sets of variants. For instance, only 20% of the SNPs included on the Affymetrix 6.0 SNP array are included on the Illumina 660K array. Genotype imputation can generate a common set of variants that can be analyzed across all the studies to boost power.

Increasing the Power of Association Studies

Another benefit of imputation lies in increasing the power to detect an association signal. When SNPs are genotyped in only a portion of the samples, imputation can increase the effective sample size by filling in the missing genotypes.

Resources and articles on Imputation

Genotype Imputation from Large Reference Panels https://www.annualreviews.org/doi/10.1146/annurev-genom-083117-021602

Tutorial:Produce PCA bi-plot for 1000 Genomes Phase III - Version 2 https://www.biostars.org/p/335605/

Principal Components Analysis of the 1000 Genome Project Phase I Data https://wangjingke.com/2015/08/04/Principal-Components-Analysis-of-the-1000-Genome-Project-Phase-I-Data

Imputation and quality control steps for combining multiple genome-wide datasets https://www.frontiersin.org/articles/10.3389/fgene.2014.00370/full

About

No description, website, or topics provided.

Resources

Stars

Watchers

Forks

Releases

No releases published

Packages

No packages published

Languages