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Glaucoma Pred: Glaucoma prediction based on Myocilin genotype and phenotype information

机译:青光眼Pred:基于肌菌素基因型和表型信息的青光眼预测

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摘要

Glaucoma is the second leading cause of blindness after cataract and is heterogeneous in nature. Employing a genetic approach for the detection of the diseased condition provides an advantage that the gene responsible for the disease can be identified by genetic test. The availability of predictive tests based on the published literature would provide a mechanism for early detection and treatment. The genotype and phenotype information could be a valuable source for predicting the risk of the disease. To this end, a web server has been developed, based on the genotype and phenotype of myocilin mutation, which were identified by familial linkage analysis and case studies. The proposed web server provides clinical data and severity index for a given mutation. The server has several useful options to help clinicians and researchers to identify individuals at a risk of developing the disease. Glaucoma Pred server is available at http://bioserver1.physics.iisc.ac.in/myocilin.
机译:青光眼是白内障后失明的第二个主要原因,其自然界是异质的。 使用用于检测患病条件的遗传方法提供了有利的是,可以通过遗传检验鉴定负责该疾病的基因。 基于公开文献的预测测试的可用性将提供早期检测和治疗的机制。 基因型和表型信息可能是预测疾病风险的有价值的源。 为此,基于肌菌素突变的基因型和表型,已经开发了一种Web服务器,其通过家族式连杆分析和案例研究鉴定。 所提出的Web服务器为给定突变提供临床数据和严重性索引。 服务器有几种有用的选项,可以帮助临床医生和研究人员识别患有疾病的风险的个人。 glaucoma pred服务器可在http://bioserver1.physics.iisc.ac.in/myocilin提供。

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