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

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Figure 6.
Figure 6.

DDD UPD P-value distributions. Distribution of the –log10 P-values for UPD detections from different data sources, with or without CNV data. Presence of sample-specific CNV data increases the proportion of extremely significant events and decreases the proportion of marginally significant events. P-value minimum truncated to 1 × 10−100.

This Article

  1. Published in Advance December 19, 2013, doi: 10.1101/gr.160465.113 Genome Res. 24: 673-687

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