利用深度学习研究神经系统疾病的隐藏突变,以应对治疗挑战

IF 6.9 3区 医学 Q1 CHEMISTRY, MEDICINAL Archives of Pharmacal Research Pub Date : 2023-06-01 DOI:10.1007/s12272-023-01450-5
Sumin Yang, Sung-Hyun Kim, Mingon Kang, Jae-Yeol Joo
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引用次数: 1

摘要

在基因组数据科学的发展领域中,转录组范围变异和神经系统疾病的相关研究正在兴起。深度学习以类似人类的方式利用算法处理大量数据,并有望预测基因组中隐藏突变的依赖性或可药物性。尽管有精细的基因校对机制,但到目前为止,在基因组中已经发现了大量编码和非编码转录本的突变变异。这些变异可能会诱发各种病理状况,包括需要终身护理的神经系统疾病。出现了一些限制和问题,包括通过有限的患者驱动序列获取和基于解码的推断使用常规过程,以及如何将罕见变异推断为人群特异性病因。这些难题需要利用先进的系统进行精确的疾病预测、药物开发和药物应用。在这篇综述中,我们总结了神经系统疾病中编码和非编码转录物致病性变异的病理生理学发现,以及目前深度学习应用的优势。此外,我们还讨论了所遇到的挑战以及如何通过先进的解释来超越它们。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

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Harnessing deep learning into hidden mutations of neurological disorders for therapeutic challenges

The relevant study of transcriptome-wide variations and neurological disorders in the evolved field of genomic data science is on the rise. Deep learning has been highlighted utilizing algorithms on massive amounts of data in a human-like manner, and is expected to predict the dependency or druggability of hidden mutations within the genome. Enormous mutational variants in coding and noncoding transcripts have been discovered along the genome by far, despite of the fine-tuned genetic proofreading machinery. These variants could be capable of inducing various pathological conditions, including neurological disorders, which require lifelong care. Several limitations and questions emerge, including the use of conventional processes via limited patient-driven sequence acquisitions and decoding-based inferences as well as how rare variants can be deduced as a population-specific etiology. These puzzles require harnessing of advanced systems for precise disease prediction, drug development and drug applications. In this review, we summarize the pathophysiological discoveries of pathogenic variants in both coding and noncoding transcripts in neurological disorders, and the current advantage of deep learning applications. In addition, we discuss the challenges encountered and how to outperform them with advancing interpretation.

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来源期刊
CiteScore
13.40
自引率
9.00%
发文量
48
审稿时长
3.3 months
期刊介绍: Archives of Pharmacal Research is the official journal of the Pharmaceutical Society of Korea and has been published since 1976. Archives of Pharmacal Research is an interdisciplinary journal devoted to the publication of original scientific research papers and reviews in the fields of drug discovery, drug development, and drug actions with a view to providing fundamental and novel information on drugs and drug candidates.
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