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在使用短读全基因组测序诊断的2型肌性发育不良的高分辨率重复结构分析.

Ingrid Lojova1, Marcel Kucharik2, Andrea Zatkova3

  • 1Institute of Clinical and Translational Research, Biomedical Research Center of the Slovak Academy of Sciences, Dúbravská Cesta 9, Karlova Ves, 845 05, Bratislava, Slovakia; Comenius University Science Park, Ilkovičova 8, Karlova Ves, 841, 04 Bratislava, Slovakia; Department of Molecular Biology, Faculty of Natural Sciences, Comenius University, Ilkovičova 6, Karlova Ves, 841 04, Bratislava, Slovakia.

Analytical biochemistry
|February 2, 2025
PubMed
概括

全基因组测序 (WGS) 提供了一种强大的新方法,通过精确地表征重复的动机来诊断2型肌性衰竭 (DM2). 这种方法显示了改善分子诊断在并联重复疾病的希望.

关键词:
大规模并行测序.肌性发育不良症2型 2型重复扩张障碍的发生.串联重复的重复整个基因组的测序.

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