Panel-Based Population Next-Generation Sequencing for Inherited Retinal Degenerations.
Panel-Based Population Next-Generation Sequencing for Inherited Retinal Degenerations.
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DOI：
10.1038/srep33248
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发表时间：
2016-09-14
影响因子：
4.6
通讯作者：
Farrar GJ
中科院分区：
文献类型：
--
作者：
Carrigan M;Duignan E;Malone CP;Stephenson K;Saad T;McDermott C;Green A;Keegan D;Humphries P;Kenna PF;Farrar GJ
遗传性视网膜病变影响全球约250万人，但鉴于这些疾病涉及的基因和突变范围多样，大多数受影响的患者缺乏明确的基因诊断。我们介绍了对大量遗传性视网膜疾病患者进行的下一代测序研究的结果，目的是提供明确和可操作的基因诊断。对309个遗传性视网膜疾病家系中的539个个体进行了靶向测序。在大多数(57%，176/309)家系中发现致病突变。我们报告了许多以前未报道的变异与视网膜疾病的关联，以及与已知基因相关的新的疾病表型，包括SLC24A1基因与视网膜色素变性的首次关联。报告了队列中最常见的与视网膜疾病有关的基因的人口统计数据，以及在此类研究期间可能出现的一些诊断难题。遗传性视网膜疾病代表了一组典型的疾病，应用基于小组的下一代测序作为检测致病突变的有效工具。
Inherited retinopathies affect approximately two and a half million people globally, yet the majority of affected patients lack clear genetic diagnoses given the diverse range of genes and mutations implicated in these conditions. We present results from a next-generation sequencing study of a large inherited retinal disease patient population, with the goal of providing clear and actionable genetic diagnoses. Targeted sequencing was performed on 539 individuals from 309 inherited retinal disease pedigrees. Causative mutations were identified in the majority (57%, 176/309) of pedigrees. We report the association of many previously unreported variants with retinal disease, as well as new disease phenotypes associated with known genes, including the first association of the SLC24A1 gene with retinitis pigmentosa. Population statistics reporting the genes most commonly implicated in retinal disease in the cohort are presented, as are some diagnostic conundrums that can arise during such studies. Inherited retinal diseases represent an exemplar group of disorders for the application of panel-based next-generation sequencing as an effective tool for detection of causative mutations.
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影响因子：
1.4
作者：
Marmor, M. F.;Fulton, A. B.;Bach, M.
通讯作者：
Bach, M.
影响因子：
14.9
作者：
Desmet FO;Hamroun D;Lalande M;Collod-Béroud G;Claustres M;Béroud C
通讯作者：
Béroud C
影响因子：
1.2
作者：
Cingolani, Pablo;Platts, Adrian;Ruden, Douglas M.
通讯作者：
Ruden, Douglas M.
影响因子：
4
作者：
Bessant, DAR;Payne, AM;Bhattacharya, SS
通讯作者：
Bhattacharya, SS
影响因子：
4.1
作者：
Carrigan, Matthew;Duignan, Emma;Farrar, G. Jane
通讯作者：
Farrar, G. Jane