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Abstract：
The Irish national registry for inherited retinal degenerations (Target 5000) is a clinical and scientific program to identify individuals in Ireland with inherited retinal disorders and to attempt to ascertain the genetic cause underlying the disease pathology. Potential participants first undergo a clinical assessment, which includes clinical history and analysis with multimodal retinal imaging, electrophysiology, and visual field testing. If suitable for recruitment, a sample is taken and used for genetic analysis. Genetic analysis is conducted by use of a retinal gene panel target capture sequencing approach. With over 1000 participants from 710 pedigrees now screened, there is a positive candidate variant detection rate of approximately 70% (495/710). Where an autosomal recessive inheritance pattern is observed, an additional 9% (64/710) of probands have tested positive for a single candidate variant. Many novel variants have also been detected as part of this endeavor. The target capture approach is an economic and effective means of screening patients with inherited retinal disorders. Despite the advances in sequencing technology and the ever-decreasing associated processing costs, target capture remains an attractive option as the data produced is easily processed, analyzed, and stored compared to more comprehensive methods. However, with decreasing costs of whole genome and whole exome sequencing, the focus will likely move towards these methods for more comprehensive data generation.
摘要：
爱尔兰遗传性视网膜变性国家登记处（Target5000）是一项临床和科学计划，旨在鉴定爱尔兰患有遗传性视网膜疾病的个体，并试图确定疾病病理的遗传原因。潜在参与者首先接受临床评估，包括临床病史和多模态视网膜成像分析，电生理学,和视野测试。如果适合招聘，取样并用于基因分析。通过使用视网膜基因组靶捕获测序方法进行遗传分析。现在有来自710个家谱的1000多名参与者进行了筛查，阳性候选变异检出率约为70%(495/710).当观察到常染色体隐性遗传模式时，另外9%(64/710)的先证者对单个候选变体测试为阳性。作为这一努力的一部分,还检测到许多新的变体。目标捕获方法是筛查遗传性视网膜疾病患者的经济有效手段。尽管测序技术的进步和相关处理成本的不断降低，目标捕获仍然是一个有吸引力的选择，因为产生的数据很容易处理，分析,和存储相比更全面的方法。然而,随着全基因组和全外显子组测序成本的降低，重点可能会转向这些方法，以便更全面地生成数据。
