Chapter 15: disease gene prioritization.

Chapter 15: disease gene prioritization.
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DOI:
10.1371/journal.pcbi.1002902
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发表时间:
2013-04
影响因子:
4.3
通讯作者:
Bromberg Y
Bromberg Y
中科院分区:
生物学2区
文献类型:
--
作者:
Bromberg Y

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基因正常功能的致病畸变将该基因定义为疾病基因。通过实验证明基因和疾病之间的因果关系既昂贵又耗时。在实验测试之前对候选基因进行全面的优先排序,大大降低了相关成本。计算基因优先级是基于各种相关证据,将每个基因与给定疾病联系起来,并提出可能的因果关系。相当多的证据来自高通量实验。因此,需要完善的方法来可靠地处理手头的大量信息。现有的基因优先排序技术已经显著提高了针对性实验研究的结果。考虑到新数据类型的更快和更可靠的技术对于开发新的诊断、治疗和治愈许多疾病是必要的。
Disease-causing aberrations in the normal function of a gene define that gene as a disease gene. Proving a causal link between a gene and a disease experimentally is expensive and time-consuming. Comprehensive prioritization of candidate genes prior to experimental testing drastically reduces the associated costs. Computational gene prioritization is based on various pieces of correlative evidence that associate each gene with the given disease and suggest possible causal links. A fair amount of this evidence comes from high-throughput experimentation. Thus, well-developed methods are necessary to reliably deal with the quantity of information at hand. Existing gene prioritization techniques already significantly improve the outcomes of targeted experimental studies. Faster and more reliable techniques that account for novel data types are necessary for the development of new diagnostics, treatments, and cure for many diseases.
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