基于深度学习的变体调用方法综述。

IF 2.5 3区 生物学 Q3 BIOTECHNOLOGY & APPLIED MICROBIOLOGY Briefings in Functional Genomics Pub Date : 2024-07-19 DOI:10.1093/bfgp/elae003
Ren Junjun, Zhang Zhengqian, Wu Ying, Wang Jialiang, Liu Yongzhuang
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引用次数: 0

摘要

基因组测序数据在个性化医疗和诊断领域变得越来越重要。然而,准确检测基因组变异仍然是一项具有挑战性的任务。传统的变异检测方法依赖于人工检测或预定义规则,既耗时又容易出错。因此,基于深度学习的变异检测方法因其能够自动学习区分变异的基因组特征而备受关注。在综述中,我们将讨论基于深度学习的算法在检测基因组数据中的微小变异和结构变异方面的最新进展,以及它们的优势和局限性。
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A comprehensive review of deep learning-based variant calling methods.

Genome sequencing data have become increasingly important in the field of personalized medicine and diagnosis. However, accurately detecting genomic variations remains a challenging task. Traditional variation detection methods rely on manual inspection or predefined rules, which can be time-consuming and prone to errors. Consequently, deep learning-based approaches for variation detection have gained attention due to their ability to automatically learn genomic features that distinguish between variants. In our review, we discuss the recent advancements in deep learning-based algorithms for detecting small variations and structural variations in genomic data, as well as their advantages and limitations.

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来源期刊
Briefings in Functional Genomics
Briefings in Functional Genomics BIOTECHNOLOGY & APPLIED MICROBIOLOGY-GENETICS & HEREDITY
CiteScore
6.30
自引率
2.50%
发文量
37
审稿时长
6-12 weeks
期刊介绍: Briefings in Functional Genomics publishes high quality peer reviewed articles that focus on the use, development or exploitation of genomic approaches, and their application to all areas of biological research. As well as exploring thematic areas where these techniques and protocols are being used, articles review the impact that these approaches have had, or are likely to have, on their field. Subjects covered by the Journal include but are not restricted to: the identification and functional characterisation of coding and non-coding features in genomes, microarray technologies, gene expression profiling, next generation sequencing, pharmacogenomics, phenomics, SNP technologies, transgenic systems, mutation screens and genotyping. Articles range in scope and depth from the introductory level to specific details of protocols and analyses, encompassing bacterial, fungal, plant, animal and human data. The editorial board welcome the submission of review articles for publication. Essential criteria for the publication of papers is that they do not contain primary data, and that they are high quality, clearly written review articles which provide a balanced, highly informative and up to date perspective to researchers in the field of functional genomics.
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