Usefulness of comprehensive targeted multigene panel sequencing for neuromuscular disorders in Korean patients

机译：综合靶向多基因面板测序对韩国患者神经肌肉疾病的作用

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BackgroundMultigene panel sequencing (MGPS) is the first‐line option in diagnostic testing for genetically heterogeneous but clinically similar conditions, such as neuromuscular disorders (NMDs). In this study, we aimed to assess the utility of comprehensive NMD MGPS and the need for updated panels.

机译：背景多基因面板测序（MGPS）是遗传异质性但临床上相似的疾病（例如神经肌肉疾病（NMD））的诊断测试的一线选择。在这项研究中，我们旨在评估综合NMD MGPS的实用性以及对更新面板的需求。

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期刊名称 Molecular Genetics Genomic Medicine
作者
Jihye Park; Hyun Mi Oh; Hye Jung Park; Ah‐Ra Cho; Dong‐Woo Lee; Ja‐Hyun Jang; Dae‐Hyun Jang;
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作者单位

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年(卷),期 2019(7),10
年度 2019
页码 e00947
总页数 12
原文格式 PDF
正文语种
中图分类遗传学;
关键词
Neuromuscular disorder Next‐generation sequencing Targeted multigene panel sequencing Whole exome sequencing;

机译：神经肌肉疾病;下一代测序;靶向多基因平板测序;全外显子组测序;

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专利

1. Usefulness of comprehensive targeted multigene panel sequencing for neuromuscular disorders in Korean patients [J] . Jihye Park, Hyun Mi Oh, Hye Jung Park, Molecular Genetics & Genomic Medicine . 2019,第10期

机译：韩国患者神经肌肉障碍综合靶向多烯面板测序的有用性
2. Target resequencing of neuromuscular disease-related genes using next-generation sequencing for patients with undiagnosed early-onset neuromuscular disorders [J] . Kitamura Yuri, Kondo Eri, Urano Mari, Journal of human genetics . 2016,第11期

机译：使用下一代测序对未确诊的早发性神经肌肉疾病患者进行神经肌肉疾病相关基因的目标重测序
3. Target resequencing of neuromuscular disease-related genes using next-generation sequencing for patients with undiagnosed early-onset neuromuscular disorders [J] . Kitamura Yuri, Kondo Eri, Urano Mari, Journal of human genetics . 2016,第11期

机译：利用未确诊的早期发病性神经肌肉障碍患者使用下一代测序重新开始神经肌肉病相关基因的重组
4. Sentosa SQ Leukemia Panel: Development of Targeted Next Generation Sequencing IVD Test for Detecting Mutations in Leukemia Patients [C] . Atreyee Saha, Pramila Ariyaratne, Wen Huang, International Molecular Medicine Tri-Conference. . 2016

机译：Sentosa Sq白血病面板：靶向下一代测序IVD试验检测白血病患者突变的研究
5. Development of a comprehensive massively parallel sequencing panel of single nucleotide polymorphism and short tandem repeat markers for human identification [D] . Warshauer, David H. 2015

机译：单核苷酸多态性和短串联重复标记的全面大规模平行测序专家组的开发用于人类鉴定
6. Genomic analysis of Korean patients with advanced prostate cancer by use of a comprehensive next-generation sequencing panel and low-coverage whole-genome sequencing [O] . Minyong Kang, Eunhae Cho, Jahyun Jang, 2019

机译：韩国人晚期前列腺癌的基因组分析采用全面的下一代测序技术和低覆盖率的全基因组测序
7. Genomic analysis of Korean patients with advanced prostate cancer by use of a comprehensive next-generation sequencing panel and low-coverage, whole-genome sequencing [O] . Minyong Kang, Eunhae Cho, Jahyun Jang, 2019

机译：使用全面的下一代测序面板和低覆盖，全基因组测序，使用全基因组测序的韩国晚期前列腺癌患者的基因组分析
8. Report of the Panel on Convulsive and Neuromuscular Disorders to the National Advisory Neurological and Communicative Disorders and Stroke Council. Volume 4 [R] . 1979

机译：国家咨询神经和交流障碍和卒中委员会关于惊厥和神经肌肉疾病专家组的报告。第4卷

Usefulness of comprehensive targeted multigene panel sequencing for neuromuscular disorders in Korean patients

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