Article
Next-generation sequencing to solve complex inherited retinal dystrophy: A case series of multiple genes contributing to disease in extended families.
Molecular vision - 1 Jan 2017
Jones Kaylie D, Wheaton Dianna K, Bowne Sara J, Sullivan Lori S, Birch David G, Chen Rui, Daiger Stephen P
Abstract excerpt
PURPOSE: With recent availability of next-generation sequencing (NGS), it is becoming more common to pursue disease-targeted panel testing rather than traditional sequential gene-by-gene dideoxy sequencing. In this report, we describe using NGS to identify multiple disease-causing mutations that contribute concurrently or independently to retinal dystrophy in three relatively small families. METHODS: Family...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.