Skip to main content

Table 2 Results of analyzing Dataset A with aff2sv and MAD

From: affy2sv: an R package to pre-process Affymetrix CytoScan HD and 750K arrays for SNP, CNV, inversion and mosaicism calling

IniProbe EndProbe LenProbe CHR LRR Bdev State Sample Pop
219677 33114837 279 8 −0.14 0.088 2 CyHD_022112T_SS199_400554WB T
43717666 78010194 285 18 0.15 0.07 3 CyHD_022112T_SS199_400554WB T
20520198 107105043 1140 14 0 0.252 1 N_Blood_control99 N
  1. Mosaic events detected by MAD (T = 7, MinSegLen = 100) on the 627 .CEL files from Afymetrix CytoScan HD corresponding to the two general populations of Nijmegen and Toronto in Dataset A. Each column of the table has its own meaning. IniProbe and EndProbe place the mosaic event on the chromosome given by column CHR. The column LenProbe informs of the number of probes in the region detected as a mosaic event, the columns LRR and Bdev are the measures used to detect the mosaic event and to make a previous attempt to classify it. state shows the result of this classification (being 1 = uniparental disomy (UPD), 2 = Deletion, 3 = Duplication, 4 = Trisomy and 5. = loss of heterozygosity (LOH)). sample tells on which sample the mosaic event was found, and the population on which one of both populations, Toronto (T) or Nijmegen (N), the sample belongs to