Fig. 1: Germline genetic screening.

A Pedigree of the tested FAP family. Proband II/1 is marked with black triangle. B Snapshot of the binary alignments of the sequenced reads visualized with Golden Helix data analysis software (Golden Helix, MT, USA). The presented genetic slice stretches from exon 5 to exon 6 of the APC gene on the reference genome build GRCh37/hg19. The upper scene shows exome sequencing results of the II/1 proband. The lower scenes present genome sequencings of the family members II/1 and II/2 respectively. Blue and green boxes are exonic regions. Colored bars are diverse variant positions. Red arrow highlights the exact genomic position of the variant selectively present in II/1. C Prioritization scheme of the WGS variants. Upmost initial boxes show the number of all genotyped variants. The variant numbers of the successive levels are calculated according to the indicated selection criteria. DP position depth, AD allele depth, VF variant allele frequency, CRC colorectal cancer, AF allele frequency. D Sanger sequencing validation of NM_000038.5(APC):c.531 + 1482 A > G genotyped by WGS. The proband was a heterozygote carrier of the variant, whereas the unaffected family member was non-carrier. Black arrows indicate the variant positions.