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Updated: Jul 21, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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Published on: August 20, 2019

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格斯塔尔特匹配器数据库 - 在罕见的人类疾病中面部表型变异性的全球参考

Hellen Lesmann1,2, Alexander Hustinx2, Shahida Moosa3

  • 1Institute of Human Genetics, University of Bonn, Bonn, NRW, Germany.

medRxiv : the preprint server for health sciences
|July 28, 2023
PubMed
概括

面部形状变异在遗传祖先之间有很大差异,影响下一代表型化 (NGP) 工具. 通过使用各种全球数据来增强NGP,例如GestaltMatcher数据库,可以提高罕见遗传疾病的诊断准确度.

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