Article
Advantage of Whole Exome Sequencing over Allele-Specific and Targeted Segment Sequencing in Detection of Novel TULP1 Mutation in Leber Congenital Amaurosis.
Ophthalmic genetics - 1 Jan 2015
Guo Yiran, Prokudin Ivan, Yu Cong, Liang Jinlong, Xie Yi, Flaherty Maree, Tian Lifeng, Crofts Stephanie, Wang Fengxiang, Snyder James, Donaldson Craig, Abdel-Magid Nada, Vazquez Lyam, Keating Brendan, Hakonarson Hakon, Wang Jun, Jamieson Robyn V
Abstract excerpt
BACKGROUND: Leber congenital amaurosis (LCA) is a severe form of retinal dystrophy with marked underlying genetic heterogeneity. Until recently, allele-specific assays and Sanger sequencing of targeted segments were the only available approaches for attempted genetic diagnosis in this condition. A broader next-generation sequencing (NGS) strategy, such as whole exome sequencing, provides an improved molecular...
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