Figure 2: Distribution of the detected high-quality rare coding
and noncoding variants detected in 30 HB patients.
Sequence ontology of the rare coding variants detected after selection
by the read depth (>10), Phred score (>20),
alternative allele frequency (>0.35), and population
frequency (<1%). A total of 2107 variants were classified
into 1671 missense mutations and 436 LoF variants.
Sequence ontology of the rare noncoding variants detected after
selection by the read depth (>10), Phred score
(>20), alternative allele frequency (>0.35),
and population frequency (<0.1%). A total of 2,070
noncoding variants were distributed in intronic, intergenic, and 3’
and 5’ UTRs.
Figure 3 : Frequency of high-quality rare germline
coding variants mapped to DNA repair genes in HB patients and a control
group. A list of 220 DNA repair genes distributed in 16 categories was
analyzed; the 12 categories with variants detected in either patients or
controls are represented. PARP – poly (ADP-ribose) polymerase.
*
p value 0.0338; Fisher’s test.