Fig. 3: Predicted oligogenic effects of allelic combinations in BBS-related genes.
From: Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome
a List of the allelic combination of the 23 families and their DiGePred and ORVAL scores. The families were grouped according to the scores obtained in those two in silico tools in (i) high confidence in both methods (red color), gene pair with digenic disease potential (DiGePred Score (DS) ≥0.374), and predicted oligogenic combination of variants with a confidence of at least 95% (Classification Score (CS) ≥0.64); (ii) high confidence for genes with digenic potential, DS ≥0.374 (green); (iii) high confidence for the oligogenic combination, but in genes with lower potential for digenism, 95%-zone candidate in ORVAL (CS ≥0.64) (orange); and iv) combinations in which digenic potential is discarded (white). ^Predictions in one of the methods could not be made for five allelic combinations. *Six families in which phenotypic and allelic differences between affected siblings were reported. b Graphic representation of the scores obtained in DiGePred and ORVAL.
