Prescreening whole exome sequencing results from patients with retinal degeneration for variants in genes associated with retinal degeneration.

ABSTRACT:

Background

Accurate clinical diagnosis and prognosis of retinal degeneration can be aided by the identification of the disease-causing genetic variant. It can confirm the clinical diagnosis as well as inform the clinician of the risk for potential involvement of other organs such as kidneys. It also aids in genetic counseling for affected individuals who want to have a child. Finally, knowledge of disease-causing variants informs laboratory investigators involved in translational research. With the advent of next-generation sequencing, identifying pathogenic mutations is becoming easier, especially the identification of novel pathogenic variants.

Methods

We used whole exome sequencing on a cohort of 69 patients with various forms of retinal degeneration and in whom screens f

SUBMITTER: Bryant L 

PROVIDER: S-EPMC5749571 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature