Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies.

ABSTRACT: Inherited monogenic diseases of the retina and vitreous affect approximately 1 in 2000 individuals. They are characterized by tremendous genetic heterogeneity and clinical variability involving mutations in approximately 250 genes and more than 20 different clinical phenotypes. Clinical manifestations of retinal dystrophies (RDs) range from mild retinal dysfunctions to severe congenital forms of blindness. A detailed clinical diagnosis and the identification of causative mutations are crucial for genetic counseling of affected patients and their families, for understanding genotype-phenotype correlations and developing therapeutic approaches. Using whole exome sequencing (WES) we have established a reliable and efficient high-throughput analysis pipeline to identify disease-causing mutatio

SUBMITTER: Tiwari A 

PROVIDER: S-EPMC4926080 | biostudies-literature | 2016 Jun

REPOSITORIES: biostudies-literature