Next-Generation Sequencing Applications for Inherited Retinal Diseases.
Next-Generation Sequencing Applications for Inherited Retinal Diseases.
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DOI：
10.3390/ijms22115684
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发表时间：
2021-05-26
影响因子：
5.6
通讯作者：
Farrar GJ
中科院分区：
文献类型：
--
作者：
Dockery A;Whelan L;Humphries P;Farrar GJ
遗传性视网膜疾病(IRD)是一组表型和遗传多样性的疾病。红斑狼疮的表型(S)可以是眼部孤立的，也可以累及多个组织。这些疾病与不同形式的遗传有关，同一基因内的变异通常与多种不同的表型有关。IRDS的这些方面突显了在患者中建立基因诊断时遇到的困难。在这里，我们提供了尖端的下一代测序技术和战略的概述，目前正在使用，以最大限度地提高IRD基因筛查的有效性。这些技术帮助全球的研究人员找到了难以捉摸的IRD原因，包括拷贝数变异、结构变异、新的IRD基因和深层内含子变异等。将基因诊断与彻底检测结合起来，可实现更准确的诊断和更知情的预后，还应提供育龄患者可能特别感兴趣的遗传模式信息。鉴于红斑狼疮是可遗传的疾病，可以提供遗传咨询，以帮助提供计划生育、携带者检测和产前筛查的信息。此外，经过验证的基因诊断可能使人们能够获得适用于这种疾病的适当临床试验或批准的药物。
Inherited retinal diseases (IRDs) represent a collection of phenotypically and genetically diverse conditions. IRDs phenotype(s) can be isolated to the eye or can involve multiple tissues. These conditions are associated with diverse forms of inheritance, and variants within the same gene often can be associated with multiple distinct phenotypes. Such aspects of the IRDs highlight the difficulty met when establishing a genetic diagnosis in patients. Here we provide an overview of cutting-edge next-generation sequencing techniques and strategies currently in use to maximise the effectivity of IRD gene screening. These techniques have helped researchers globally to find elusive causes of IRDs, including copy number variants, structural variants, new IRD genes and deep intronic variants, among others. Resolving a genetic diagnosis with thorough testing enables a more accurate diagnosis and more informed prognosis and should also provide information on inheritance patterns which may be of particular interest to patients of a child-bearing age. Given that IRDs are heritable conditions, genetic counselling may be offered to help inform family planning, carrier testing and prenatal screening. Additionally, a verified genetic diagnosis may enable access to appropriate clinical trials or approved medications that may be available for the condition.
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影响因子：
9.8
作者：
Beales, PL;Badano, JL;Katsanis, N
通讯作者：
Katsanis, N
影响因子：
4.1
作者：
Carrigan, Matthew;Duignan, Emma;Farrar, G. Jane
通讯作者：
Farrar, G. Jane
影响因子：
5.9
作者：
Brooks, Matthew J.;Chen, Holly Y.;Swaroop, Anand
通讯作者：
Swaroop, Anand
影响因子：
12.7
作者：
Bandres-Ciga S;Saez-Atienzar S;Kim JJ;Makarious MB;Faghri F;Diez-Fairen M;Iwaki H;Leonard H;Botia J;Ryten M;Hernandez D;Gibbs JR;Ding J;Gan-Or Z;Noyce A;Pihlstrom L;Torkamani A;Soltis AR;Dalgard CL;American Genome Center;Scholz SW;Traynor BJ;Ehrlich D;Scherzer CR;Bookman M;Cookson M;Blauwendraat C;Nalls MA;Singleton AB;International Parkinson Disease Genomics Consortium
通讯作者：
International Parkinson Disease Genomics Consortium
影响因子：
3.5
作者：
Botton MR;Yang Y;Scott ER;Desnick RJ;Scott SA
通讯作者：
Scott SA