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Updated: Oct 28, 2025

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一个GA4GH现象包的群体:为基因组诊断和发现进行案例级的表型化

Daniel Danis1, Michael J Bamshad2, Yasemin Bridges3

  • 1Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany; The Jackson Laboratory for Genomic Medicine, 10 Discovery Drive, Farmington CT 06032, USA.

HGG advances
|October 12, 2024
PubMed
概括

芬诺包商店提供大量的标准化芬诺包,用于测试基因组诊断软件. 本资源有助于开发和验证用于疾病诊断和治疗发现的算法.

关键词:
全球基因组学与健康联盟人类现象型的本体学.现象包 (Phenopacket) 是一个模式.

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