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Updated: May 22, 2025

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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Published on: August 15, 2019

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GA4GH 基因型-表型相关性在门德尔乱中的表包驱动的表征

Lauren Rekerle1, Daniel Danis2, Filip Rehburg2

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

medRxiv : the preprint server for health sciences
|March 17, 2025
PubMed
概括

这项研究介绍了GPSEA,一种使用标准化数据格式的软件工具,用于在门德尔病中发现基因型-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.

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