A novel method for detecting uniparental disomy from trio genotypes identifies a significant excess in children with developmental disorders

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Figure 7.
Figure 7.

UPD example plot. A plot of QC-passing proband genotypes on each autosome. The position and color reflect zygosity (homozygous, heterozygous) and informative state (biparental inheritance, maternal isodisomy, maternal heterodisomy or isodisomy, paternal isodisomy, paternal heterodisomy or isodisomy). The figure displays each chromosome ideogram. Each chromosome has an x-axis (chromosome position) and y-axis (zygosity, and informative event type). In this case, the UPD event for chromosome 2 is depicted with a mixture of dark-green points (maternal isodisomy) and light-green points (maternal isodisomy or maternal heterodisomy). The zygosity row demonstrates homozygosity along the entirety of the chromosome, reflecting the complete isodisomy.

This Article

  1. Genome Res. 24: 673-687

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