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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

  Union Shared Unique
EM-Mosaic MosaicHunter
High-confidence mosaic variants* 332 57 240 35
Mosaic candidates 367 58 251 58
Mosaic candidate VAF mean (SD) 0.13 (0.06) 0.12 (0.05) 0.13 (0.06) 0.10 (0.05)
MiSeq confirmation
 Total tested 143 22 75 46
 Mosaic 108 21 64 23
 Germline 3 0 3 0
 No variant 32 1 8 23
Validation rate 76% 95% 85% 50%
  1. *Mosaic variants detected from blood DNA of 2530 CHD probands, after excluding sites failing MiSeq confirmation