ALT Screenshot of Figure 2: An overview of our approach and the distribution of 52 candidate non-coding second hits across different regions. (A) Details of our search focusing on 793 genes with a single pLoF or ClinVar (Likely) Pathogenic variant in 4,073 undiagnosed trio probands. The different candidate non-coding regions analysed for a second hit are shown in colour; (B) Count of candidate variants clinically curated as ‘probable’, ‘possible’ or ‘unlikely’, split by region and annotations. The indicated genes are those that were assessed to be a ‘probable’ fit. (C) Upset plot of region-specific annotations used to prioritise candidate variants. This plot does not include two additional probands who had two compound heterozygous ClinVar pathogenic/likely pathogenic variants, one protein-altering and one non-coding.

ALT Screenshot of Figure 2- Heatmap of DPV Gene Combinations