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

Other Titles
Harnessing deep learning into hidden mutations of neurological disorders for therapeutic challenges
Authors
Yang, SuminKim, Sung-HyunKang, MingonJoo, Jae-Yeol
Issue Date
Jun-2023
Publisher
대한약학회
Keywords
Transcriptome; Rare mutations; Sequencing; Deep learning; Neurological disorders; Druggable target
Citation
Archives of Pharmacal Research, v.46, no.6, pp.1 - 15
Indexed
SCIE
SCOPUS
KCI
Journal Title
Archives of Pharmacal Research
Volume
46
Number
6
Start Page
1
End Page
15
URI
https://scholarworks.bwise.kr/hanyang/handle/2021.sw.hanyang/188221
DOI
10.1007/s12272-023-01450-5
ISSN
0253-6269
Abstract
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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