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Updated: Jul 4, 2025

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在临床实践中进行全基因组测序

Frederik Otzen Bagger1, Line Borgwardt1, Andreas Sand Jespersen1

  • 1Center for Genomic Medicine, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.

BMC medical genomics
|January 29, 2024
PubMed
概括

全基因组测序 (WGS) 为诊断罕见疾病和识别癌症驱动因素提供了全面的遗传见解. 在临床应用的数据处理,解释和报告方面仍然存在挑战.

关键词:
临床生物信息学基础设施功能变体测试功能变体测试变种过和解释整个基因组的测序.

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