Fig. 2.

Capability of the semiconductor technology to detect mutations near homopolymer regions. a. Mutation c.2052dupA occur in (A)7 homopolymer region of the CFTR which is complicated to accurately discriminate with the semiconductor NGS technology b. Single sample carrying c.2052dupA mutation demonstrates presence of the variant (A)8 allele in sequencing reads (indicated by arrows) alongside with the (A)7, (A)6 and (A)5 alleles in contrast to sample without mutation, harboring predominantly (A)7, (A)6 and (A)5 alleles c. Distribution of (A)8 variant allele frequency across sequencing among all samples. The majority of samples are grouped below 10% allele frequency, while mutation carries have frequencies of 16, 18, 21 and 42%