{"title":"Current Advances in Genetic Testing for Spinal Muscular Atrophy","authors":"Yulin Zhou, Yu Jiang","doi":"10.2174/0113892029273388231023072050","DOIUrl":null,"url":null,"abstract":"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.","PeriodicalId":10803,"journal":{"name":"Current Genomics","volume":"103 6","pages":"0"},"PeriodicalIF":1.4000,"publicationDate":"2023-11-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Current Genomics","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.2174/0113892029273388231023072050","RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"BIOCHEMISTRY & MOLECULAR BIOLOGY","Score":null,"Total":0}
引用次数: 0
Abstract
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.
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.
京公网安备 11010802042870号
京ICP备2023020795号-1
分享
求助内容：
应助结果提醒方式：
扫码关注我们
