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Updated: Jan 20, 2026

In Vivo Modeling of the Morbid Human Genome using Danio rerio
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SyMetrics:一种集成的机器学习模型,用于评估人类基因组中同名变异的病原性

Linnaeus Bundalian1,2, Martina Schmidt Strnadová3, Felix Garten1

  • 1Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Saxony 04103, Germany.

NAR genomics and bioinformatics
|January 19, 2026
PubMed
概括

同义单核酸变体 (sSNVs) 可以影响生物学. 一个新的框架,SyMetrics,准确地识别了有害的sSNV,揭示了数百万可能有害的,并帮助临床变异解释.

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