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Updated: Jun 10, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Published on: April 4, 2018

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PathVar:一个可定制的NGS变体调用算法涉及新型候选基因和途径在半性偏头痛中.

Mohammed M Alfayyadh1, Neven Maksemous1, Heidi G Sutherland1

  • 1Centre for Genomics and Personalised Health, Genomics Research Centre, School of Biomedical Sciences, Queensland University of Technology (QUT), Brisbane, Australia.

Clinical genetics
|October 12, 2024
PubMed
概括

一个新的生物信息学工具PathVar通过分析下一代测序数据,有助于发现半性偏头痛 (HM) 的遗传原因. 它识别了潜在的致病变体,推动了对HM和其他复杂遗传疾病的研究.

关键词:
路径Var 路径Var标注注释 标注注释生物信息学是一种生物信息学.遗传变异是一种遗传变异.这是一种半性偏头痛.

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