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Updated: Jul 20, 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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代表性不足的人群中神经肌肉疾病遗传学:增加数据多样性

Lindsay A Wilson1, William L Macken1, Luke D Perry2,3

  • 1Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK.

Brain : a journal of neurology
|July 30, 2023
PubMed
概括

全球伙伴关系改善了不同人群中神经肌肉疾病 (NMD) 的遗传诊断,解决了数据不平等问题. 这项倡议促进了对NMD遗传结构的理解,并为全球受影响家庭提供了基于DNA的诊断.

关键词:
能力建设能力建设.平等和多样性的平等和多样性.基因组医学是基因组医学.遗传神经肌肉疾病 遗传神经肌肉疾病低至中等收入国家.

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