Accurate typing of short tandem repeats from genome-wide sequencing data and its applications

(Downloading may take up to 30 seconds. If the slide opens in your browser, select File -> Save As to save it.)

Click on image to view larger version.

Figure 2.
Figure 2.

Factors that affect the accuracy of STR heterozygote genotyping, using the error correction model. (A) STR length. (B) The length difference in a heterozygote. (C) The ratio of read depths supporting each allele. (D) Read depth. All read profiles are generated from (A)m (A)n heterozygotes. The x-axis shows different STR length arrays, with the number of reads indicated for each genotype. The y-axis (confidence of correct prediction) shows the ratio of the probability for a locus to be a heterozygote versus a homozygote depending on the read length profile. The magnitude of the bar implies higher confidence in genotyping. The negative value indicates incorrect genotyping. PCR− error profiles from human X Chromosome data were used to calculate probabilities that the read profiles correspond to homozygous or heterozygous loci, which reflects the accuracy of genotyping, since the true genotype is a heterozygote.

This Article

  1. Genome Res. 25: 736-749

Preprint Server