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全基因组分析的价值在骨突症中的价值

Alexandra Topa1,2, Anna Rohlin1,2, André Fehr1,3

  • 1Department of Laboratory Medicine, University of Gothenburg, Sahlgrenska Academy, Gothenburg, Sweden.

Frontiers in genetics
|February 6, 2024
PubMed
概括

高通量测序,包括全基因组或全外基因组测序 (WGS/WES),通过识别先前未被诊断的患者的遗传原因,显著改善了骨突症 (CS) 的诊断. 这种强大的工具有助于针对各种CS演示的有针对性和广泛的基因组分析.

关键词:
头骨面部 面部 面部基因 基因 基因 基因遗传学 遗传学 遗传学 遗传学 是一个头骨 头骨头 头骨 头骨 头骨 头骨 头骨suture suture综合征综合征是指一个综合征.综合静止症 综合静止症

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