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Updated: May 17, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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评估七个生物信息平台,以对一组试点患者的整个外体序列测序中的基因组数据进行三级分析

Nerea Bastida-Lertxundi1,2, Itxaso Martí-Carrera3,4,5, Borja Laña-Ruíz4

  • 1Biogipuzkoa Health Research Institute, Neurogenetics, Biology and RNA Therapies Research Group - NeuroRNA, San Sebastián, Spain.

Advances in laboratory medicine
|March 31, 2025
PubMed
概括

这项研究评估了七个人工智能驱动的生物信息平台,用于基因组变异分析. 富兰克林在优先考虑和分类遗传变异方面表现出最好的整体表现,显示出高精度和临床相关性.

关键词:
人工智能的人工智能是人工智能.自动化分类的自动化分类.通过自动化优先级设置.生物信息学工具 生物信息学工具三级分析是指三级分析.整个exome是一个完整的exome.

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