Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing.

ABSTRACT:

Purpose

Retinal dystrophies are genetically heterogeneous, resulting from mutations in over 200 genes. Prior to the development of massively parallel sequencing, comprehensive genetic screening was unobtainable for most patients. Identifying the causative genetic mutation facilitates genetic counselling, carrier testing and prenatal/pre-implantation diagnosis, and often leads to a clearer prognosis. In addition, in a proportion of cases, when the mutation is known treatment can be optimised and patients are eligible for enrolment into clinical trials for gene-specific therapies.

Methods

Patient genomic DNA was sheared, tagged and pooled in batches of four samples, prior to targeted capture and next generation sequencing. The enrichment reagent was designed against genes list

SUBMITTER: Watson CM 

PROVIDER: S-EPMC4136783 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature