Detection of structural mosaicism from targeted and whole-genome sequencing data

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Figure 3.
Figure 3.

Structural mosaicism detected from exome data: Structural Mosaicism Detected by MrMosaic in the Deciphering Developmental Disorders (DDD) study. Black and red dots represent copy number and allele fraction, respectively. Cdev and Bdev are plotted in black and red trend lines. The blue line represents statistically significant segmented detections passing a threshold. Different classes of events are found: (AC) Mosaic gains; (DF) mosaic losses; (G) mixed copy number; (H,I) loss-of-heterozygosity events.

This Article

  1. Genome Res. 27: 1704-1714

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