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Methods of identifying the genetic basis of a disease by a combinatorial genomics approach, biological pathway approach, and sequential approach

机译:通过组合基因组学方法,生物途径方法和顺序方法鉴定疾病遗传基础的方法

摘要

In one embodiment, the invention provides methods of identifying genes and genetic variants that, either alone or in combination, are important to the pathogenesis of a disease. In another embodiment, the disease is stratified by use of an immune response to disease-associated antigens. In another embodiment, the invention provides methods of identifying pathways that, either alone or in combination, are important to the pathogenesis of a disease. In another embodiment, the invention provides a method of diagnosing or predicting susceptibility to a disease in an individual by determining the presence or absence of genes and genetic variants that, either alone or in combination, are important to the pathogenesis of the disease.
机译:在一个实施方案中,本发明提供了鉴定对疾病的发病机理而言重要的基因和遗传变体的方法,所述基因和遗传变体单独或组合使用。在另一个实施方案中,通过使用对疾病相关抗原的免疫应答将疾病分层。在另一个实施方案中,本发明提供了鉴定对疾病的发病机理重要的途径的方法,所述途径单独或组合使用。在另一个实施方案中,本发明提供了一种通过确定单独或组合地对疾病的发病机理重要的基因和遗传变体的存在或不存在来诊断或预测个体对疾病的易感性的方法。

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