Fig. 3

Optimization of tertitary WGS-data analysis. a The VCF from the index patient (individual III:3), was filtered by MAF, followed by an “IRD gene filtering” and a manual filtering. b The VCF from three individuals belonging to the same family (individuals III:3, III:23 and IV:1) allowed us to introduce a new filtering step based on the pedigree information (“pedigree filtering”) leading to a reduction in the number of variants pending to be interrogated manually. c The combined VCF from the three individuals sequenced and 6 additional unaffected individuals belonging to unrelated families was used as the pseudo-control cohort. This modification allowed us to introduce another filtering step (“recurrence filtering”) in which only variants exclusive of the family in study remained for further analysis. d Proposed algorithm for variant filtering and prioritization using WGS data of patients with inherited retinal dystrophy. Ind: individual; PCs: Pseudo-controls