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Updated: Feb 7, 2026

Amplicon Sequencing using the Long-Read Sequencing Technologies
08:57

Amplicon Sequencing using the Long-Read Sequencing Technologies

Published on: August 29, 2025

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基准测试长读测序方法来解决 facioscapulohumeral dystrophy 位复杂性的复杂性

Charlotte Tardy1,2, Jean Philippe Trani1, Victor Murcia Pienkowski1

  • 1Aix-Marseille Univ-INSERM, Marseille Medical Genetics, Marseille, 13005, France.

Brain : a journal of neurology
|February 5, 2026
PubMed
概括

通过在4q35位点识别复杂的结构变异,改善了面骨骨缩症 (FSHD) 的诊断. 这些变异在标准测试中没有发现,对于缺乏FSHD1/FSHD2遗传原因的患者来说至关重要.

关键词:
D4Z4 D4Z4 D4Z4 D4Z4 D4Z4 D4Z4 D4Z4 D4Z4通过DNA甲基化.诊断 诊断 诊断 诊断 诊断 诊断面额骨头部部缩症 面额骨头部缩症 面额骨头部缩症长时间阅读序列排序.结构变体 结构变体

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