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Updated: Jun 11, 2025

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

Published on: August 15, 2019

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创世记数据库和工具:孟德尔基因组学十年的发现

Matt C Danzi1, Eric Powell1, Adriana P Rebelo1

  • 1Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.

Experimental neurology
|October 2, 2024
PubMed
概括

创世纪平台通过汇总超过20,000名患者数据集,加速了罕见疾病基因的发现. 这种资源赋予了研究人员权力,导致了100多个基因的发现,并解决了许多诊断旅程.

关键词:
数据聚合,数据聚合.数据共享数据的共享.基因组测序是指基因组的测序.单一性疾病是一种单一性疾病.神经肌肉疾病 神经肌肉疾病

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