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Table 1 Mosaic variant detection by EM-Mosaic and MosaicHunter and validated by PCR product sequencing

From: EM-mosaic detects mosaic point mutations that contribute to congenital heart disease

 UnionSharedUnique
EM-MosaicMosaicHunter
High-confidence mosaic variants*3325724035
Mosaic candidates3675825158
Mosaic candidate VAF mean (SD)0.13 (0.06)0.12 (0.05)0.13 (0.06)0.10 (0.05)
MiSeq confirmation
 Total tested143227546
 Mosaic108216423
 Germline3030
 No variant321823
Validation rate76%95%85%50%
  1. *Mosaic variants detected from blood DNA of 2530 CHD probands, after excluding sites failing MiSeq confirmation