脊髓性肌萎缩症基因检测的最新进展

IF 1.8 4区生物学 Q4 BIOCHEMISTRY & MOLECULAR BIOLOGY

Current Genomics Pub Date : 2023-11-10 DOI:10.2174/0113892029273388231023072050

Yulin Zhou, Yu Jiang

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引用次数: 0

摘要

摘要:脊髓性肌萎缩症(SMA)是世界范围内最常见的遗传性疾病之一，基因检测在其诊断和预防中起着关键作用。在过去的十年中，SMA基因检测的新方法不断涌现，与传统方法一起，在一定程度上影响了临床实践模式。针对不同的应用场景，选择合适的基因检测技术已成为优化SMA临床途径的重点。本文综述了SMA基因检测的最新技术创新，包括MassArray®、数字PCR (dPCR)、下一代测序(NGS)和第三代测序(TGS)。探讨了在SMA三级预防中合理选择不同技术策略的实施建议。

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Current Advances in Genetic Testing for Spinal Muscular Atrophy

Abstract: pinal muscular atrophy (SMA) is one of the most common genetic disorders worldwide, and genetic testing plays a key role in its diagnosis and prevention. The last decade has seen a continuous flow of new methods for SMA genetic testing that, along with traditional approaches, have affected clinical practice patterns to some degree. Targeting different application scenarios and selecting the appropriate technique for genetic testing have become priorities for optimizing the clinical pathway for SMA. In this review, we summarize the latest technological innovations in genetic testing for SMA, including MassArray®, digital PCR (dPCR), next-generation sequencing (NGS), and third-generation sequencing (TGS). Implementation recommendations for rationally choosing different technical strategies in the tertiary prevention of SMA are also explored.

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来源期刊

Current Genomics 生物-生化与分子生物学

CiteScore

5.20

自引率

0.00%

发文量

审稿时长

>0 weeks

期刊介绍： Current Genomics is a peer-reviewed journal that provides essential reading about the latest and most important developments in genome science and related fields of research. Systems biology, systems modeling, machine learning, network inference, bioinformatics, computational biology, epigenetics, single cell genomics, extracellular vesicles, quantitative biology, and synthetic biology for the study of evolution, development, maintenance, aging and that of human health, human diseases, clinical genomics and precision medicine are topics of particular interest. The journal covers plant genomics. The journal will not consider articles dealing with breeding and livestock. Current Genomics publishes three types of articles including: i) Research papers from internationally-recognized experts reporting on new and original data generated at the genome scale level. Position papers dealing with new or challenging methodological approaches, whether experimental or mathematical, are greatly welcome in this section. ii) Authoritative and comprehensive full-length or mini reviews from widely recognized experts, covering the latest developments in genome science and related fields of research such as systems biology, statistics and machine learning, quantitative biology, and precision medicine. Proposals for mini-hot topics (2-3 review papers) and full hot topics (6-8 review papers) guest edited by internationally-recognized experts are welcome in this section. Hot topic proposals should not contain original data and they should contain articles originating from at least 2 different countries. iii) Opinion papers from internationally recognized experts addressing contemporary questions and issues in the field of genome science and systems biology and basic and clinical research practices.