Unmasking Retinitis Pigmentosa complex cases by a whole genome sequencing algorithm based on open-access tools: hidden recessive inheritance and potential oligogenic variants

摘要

Pedigree of the RP family and segregation analysis studies. Below the individuals, genotypes are presented for each variant segregating with RP. Index patients are indicated with a black arrow. [M] represents identified mutations; [=] indicates wild-type alleles