github.com/johnpshelley/agd_genotypeconcordance/PLINK_SexCheck_Array

Task 1: Calculate genotype concordance

Steps:

  1. JS_GetMEGAVariants.ipynb: Identify GRIDs and autosomal variants (CHR:POS) genotyped in MEGA dataset (biovu_megaex_20231001_v2_plink_hg38)
  2. VUMC_CalculateGenotypeConcordance WDL: Extract from AGD the GRIDs and variants genotyped in MEGA. SNPs are mapped to hg38 and SNP IDs renamed as “CHR:POS:REF:ALT”. Multi-allelic variants were also excluded. Missingness and allele frequency for each variant is calculated and output to concordan

This is a companion discussion topic for the original entry at github.com/johnpshelley/agd_genotypeconcordance/PLINK_SexCheck_Array