Fig. 1: Flowchart for identifying pathogenic variants among an inherited retinal degeneration (IRD) cohort.

After WGS sequencing and quality control, we performed SV and SNV/indel calling on a total of 271 patients together with their family members. Rare variants were identified by filtering allele frequencies with background populations. Variants were annotated against gene models considering retina-specific transcript expression. Candidate pathogenic variants were further examined for concordance with inheritance patterns among family members.