Fig. 4: Long read nanopore sequencing confirms de novo PKD1 variant occurred on the paternal allele.
From: Atypical splicing variants in PKD1 explain most undiagnosed typical familial ADPKD
The middle panel shows long-read genome sequencing data from RPA017 over PKD1 exons 31–35, separated into maternal and paternal alleles. The top panel ‘zooms in’ over the region that includes the pathogenic PKD1 exon 31 variant identified in RPA017. The variant is absent in RPA015 (affected mother). The bottom panel ‘zooms in’ over an intronic single nucleotide variant identified in RPA017 that short-read GS and Sanger sequencing shows is present in RPA016 (unaffected father) and absent in RPA015 (affected mother). In RPA017, this variant is seen on the same long-read sequencing as the pathogenic PKD1 variant, demonstrating that the de novo disease-causing variant in RPA017 has occurred on her paternally inherited PKD1 allele. GS genome sequencing.
