paperKB
coga / coga-kb
Help
Sign in

Chunk #24 — Methods — Quality metrics and validation statistics

Source
A comparison of BeadChip and WGS genotyping outputs using partial validation by sanger sequencing.
Embedded
yes

Text

The following metrics were extracted from corresponding GenomeStudio reports: GC score GenCall score, a quality metric that indicates the reliability of each genotype call. The GenCall Score is a value between 0 and 1 assigned to every called genotype. Genotypes with lower GenCall scores are located further from the centre of a cluster and have lower reliability.GT score GenTrain score, a quality metric that indicates how well the samples clustered for a locus.Cluster Sep cluster separation score.Theta — the normalized Theta-value of the SNP for the sample.R — the normalized R-value of the SNP for the sample.X — the normalized intensity of the A allele.Y — the normalized intensity of the B allele.B Allele Freq B allele theta value of the SNP for the sample, relative to the cluster positions. This value is normalized so that it is zero if theta is less than or equal to the AA cluster’s theta mean, 0.5 if it is equal to the AB cluster’s theta mean, or 1 if it is equal to or greater than the BB cluster’s theta mean. B Allele Freq is linearly interpolated between 0 and 1.