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Next-generation sequencing technology in the diagnosis of mitochondrial disorders.

作者信息

Ahmad Rizwan, Hasan Mohammad Yusuf

机构信息

Vice Deanship of Quality and Development, College of Medicine, Imam Abdulrahman bin Faisal University, Dammam, KSA.

Department of Biomedical Sciences, School of Biomedical Sciences, Newcastle University, Newcastle upon Tyne, NE1 7RU, United Kingdom.

出版信息

Int J Health Sci (Qassim). 2021 Jan-Feb;15(1):1-2.

PMID:33456435
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7786442/
Abstract
摘要

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本文引用的文献

1
Mitochondrial Diseases: A Diagnostic Revolution.线粒体疾病：诊断的革命。
Trends Genet. 2020 Sep;36(9):702-717. doi: 10.1016/j.tig.2020.06.009. Epub 2020 Jul 13.
2
Germline selection shapes human mitochondrial DNA diversity.种系选择塑造了人类线粒体 DNA 的多样性。
Science. 2019 May 24;364(6442). doi: 10.1126/science.aau6520. Epub 2019 May 23.
3
Recent advances in understanding the molecular genetic basis of mitochondrial disease.近年来，人们对线粒体疾病的分子遗传基础有了更深入的了解。
J Inherit Metab Dis. 2020 Jan;43(1):36-50. doi: 10.1002/jimd.12104. Epub 2019 May 10.
4
Next-generation sequencing approach for the diagnosis of human diseases: open challenges and new opportunities.用于人类疾病诊断的下一代测序方法：面临的公开挑战与新机遇。
EJIFCC. 2018 Apr 30;29(1):4-14. eCollection 2018 Apr.
5
Targeted next generation sequencing with an extended gene panel does not impact variant detection in mitochondrial diseases.使用扩展基因 panel 的靶向二代测序不会影响线粒体疾病中的变异检测。
BMC Med Genet. 2018 Apr 7;19(1):57. doi: 10.1186/s12881-018-0568-y.
6
Next-generation sequencing and molecular cytogenetic characterization of ETV6-LYN fusion due to chromosomes 1, 8 and 12 rearrangement in acute myeloid leukemia.急性髓系白血病中因1号、8号和12号染色体重排导致的ETV6-LYN融合的新一代测序及分子细胞遗传学特征分析
Cancer Genet. 2017 Dec;218-219:15-19. doi: 10.1016/j.cancergen.2017.09.001. Epub 2017 Sep 13.
7
Detection rates and phenotypic spectrum of m.3243A>G in the MT-TL1 gene: a molecular diagnostic laboratory perspective.MT-TL1 基因 m.3243A>G 的检测率及表型谱：分子诊断实验室视角。
Mitochondrion. 2014 Jul;17:34-41. doi: 10.1016/j.mito.2014.05.005. Epub 2014 May 17.
8
Clinical interpretation and implications of whole-genome sequencing.全基因组测序的临床解读及意义。
JAMA. 2014 Mar 12;311(10):1035-45. doi: 10.1001/jama.2014.1717.
9
Next-generation sequencing for mitochondrial disorders.线粒体疾病的下一代测序技术
Br J Pharmacol. 2014 Apr;171(8):1837-53. doi: 10.1111/bph.12469.
10
Targeted exome sequencing of suspected mitochondrial disorders.疑似线粒体疾病的靶向外显子组测序。
Neurology. 2013 May 7;80(19):1762-70. doi: 10.1212/WNL.0b013e3182918c40. Epub 2013 Apr 17.