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Chunk #35 — Methods — Comparison with 1000 Genomes Project genotype calls

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The GenomeAsia 100K Project enables genetic discoveries across Asia.
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We filtered the variant calls to include only biallelic SNPs with <10% missing genotype calls that were within the 1000 Genomes Project strict mask (available at ftp://ftp.1000genomes.ebi.ac.uk/vol1/ftp/release/20130502/supporting/accessible_genome_masks/20141020.strict_mask.whole_genome.bed). Then, for each of the 119 overlapping samples considered individually, we calculated variant discordance rates for those filtered SNPs that (1) had a genotype call in both the 1000 Genomes Project data and the GAsP data; and (2) had a ‘variant’ call (that is, a non-homozygous reference genotype call) in at least one of the datasets. These discordance rates were then stratified by the estimated MAF in the GAsP dataset.