Fig. 2

Graphical representation of the results from an analysis of internal datasets by GeneTerpret and manual interpretation. A The top hundred of ranked variants from the family-based analysis of ten families are represented. The red colour is highlighting the variant of interest (VOI) selected by a human analyst as published before [21]. The boxes around the variants cluster the same ranked variants by GeneTerpret (the same pathogenicity and validity terms). B The cohort-based results for 20 unrelated probands with “Tetralogy of Fallot”. The top hundred ranked variants are plotted as circles from top to bottom. The only five VOIs selected by a human genome analyst in five patients from this cohort [20] are highlighted in colours. Different colours have been selected to distinguish the VOI related to each patient. For comparison, individual analysis of genomes from the five probands with VOIs are also plotted using the same colour-coding. For instance, the purple colour represents the obtained VOI for patient TOF53 (one of the probands in the cohort). This variant is ranked 44 in the cohort-based analysis and ranked 8 in the singleton-based analysis by GeneTerpret