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. 2015 Jul 2;97(1):67–74. doi: 10.1016/j.ajhg.2015.05.008

Figure 1.

Figure 1

Workflow for the Detection of Mosaic Mutations among a Subset of Apparently De Novo Mutations

(A) Assessment of technique-dependent variation in sequencing of two groups of heterozygous germline variants (in blue) for determining the distribution of allelic ratios for three different techniques (WGS, ADS, and Sanger sequencing).

(B) Previously identified de novo mutations were re-sequenced by ADS and Sanger sequencing for determining the variant ratio. With the use of the combined Z score, nine putative somatic variations were identified. They were then validated by ADS with a second independent primer pair and smMIPs. Seven of nine were confirmed to deviate in allelic ratio, suggesting a non-germline event.

(C) Identification of de novo mutations originating from parental mosaicism. Of 4,081 high-confidence de novo mutations identified by WGS, 13 were identified to have two or more variant reads in parental DNA. With the use of ADS data from the non-carrier parent for correcting for the background sequencing error, four mutations appearing as de novo in the child were identified as low-level mosaicism in one of the parents.