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Updated: Jan 7, 2026

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

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在孟德尔乱中,GA4GH基因型 - 基因型相对应的基因包驱动的表征

Lauren Rekerle1, Daniel Danis2, Filip Rehburg2

  • 1The Jackson Laboratory for Genomic Medicine, 10 Discovery Drive, Farmington CT 06032, USA.

American journal of human genetics
|December 24, 2025
PubMed
概括

这项研究介绍了GPSEA,一个软件工具,标准化遗传和临床数据,以找到门德尔病的基因型-表型相关性 (GPC). GPSEA成功地在多个队伍中识别了许多重要的GPC,改善了对疾病的理解.

关键词:
全球基因组学与健康联盟人类现象型本体学门德尔氏病是门德尔氏病的一种疾病.基因型-表型相关性相关性

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