Figure 2.

Pedigree and summary of all samples sequenced by nanopore sequencing. (a) Schematic representation of the pedigree affected by autism spectrum disorder exhibiting variants of unknown significance. Affected triplets are represented in shaded squares originating from one point and MZ twins (MU006 and MU007) are indicated with a horizontal line joining their shaded squares. Pedigree displays a 60 kb de novo deletion in the OR4C11 gene present in the MZ twins and the dizygotic twin. (b) Representation of the whole-genome sequenced data per sample (parents, unaffected brothers, and the triplets) in terms of the number of bases sequenced using the MinION sequencer. All bases represented in light purple are unfiltered and the passed bases depicted in dark purple have been filtered to remove low-quality reads. All passed reads possess a quality score of 7 or above. The estimated bases are represented in gigabytes. The secondary y-axis indicates the number of passed reads generated. Yellow diamonds represent the number of passed reads per sample. This data was formulated using pycoQC v2.5.0.23.