Target 5000: Target Capture Sequencing for Inherited Retinal Degenerations.

ABSTRACT: There are an estimated 5000 people in Ireland who currently have an inherited retinal degeneration (IRD). It is the goal of this study, through genetic diagnosis, to better enable these 5000 individuals to obtain a clearer understanding of their condition and improved access to potentially applicable therapies. Here we show the current findings of a target capture next-generation sequencing study of over 750 patients from over 520 pedigrees currently situated in Ireland. We also demonstrate how processes can be implemented to retrospectively analyse patient datasets for the detection of structural variants in previously obtained sequencing reads. Pathogenic or likely pathogenic mutations were detected in 68% of pedigrees tested. We report nearly 30 novel mutations including three large str

SUBMITTER: Dockery A 

PROVIDER: S-EPMC5704217 | biostudies-literature | 2017 Nov

REPOSITORIES: biostudies-literature