Figure 2
From: Prion protein gene mutation detection using long-read Nanopore sequencing
Detection of known variants in PRNP with Nanopore sequencing. (a) Each dot represents an SNV call by Nanopolish. SNV calls are ranked by increasing evidence of strand bias (SOR, strand odds ratio). In orange are the SNVs in the protein-coding region which were also called by Sanger. They are together the set of true positives we used to calibrate our strand bias threshold (SOR = 1.0, dashed black line). (b) Number of individuals from our panel who carried each unique SNV as a function of allele frequency in the general population. r = 0.94 by Pearson’s correlation. (c) Lengths of the OPR reads in seven inherited CJD cases. (d) Lengths of the OPR reads in four inherited cases for which genomic DNA from blood and brain was sequenced. The read lengths form a distribution around each expected OPR length due to small artefactual insertions/deletions typical of Nanopore sequencing. See Table 1 for more details about individuals and samples.
