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Updated: Jan 11, 2026

In Vivo Modeling of the Morbid Human Genome using Danio rerio
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从功能证据预测人类误解变异效应

Barış Kayaalp1, Kerem Çil1, Clément Conil2,3

  • 1Department of Molecular Biology and Genetics, Bilkent University, 06800 Ankara, Türkiye.

Research square
|November 19, 2025
PubMed
概括

FuncVEP是一个新的工具,使用功能数据预测误解变异效应,提高疾病基因识别的准确性. 它的性能优于现有的方法,有助于发现新的基因-表型联系.

关键词:
遗传流行病学遗传流行病学免疫的先天性错误没有意义的变体菲瓦斯 (Phewas) 是一个小行星.变量效应预测器变量效应预测器

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Point and Frameshift Mutations

Point mutations are genetic alterations involving the change of a single nucleotide base pair in DNA. Depending on how the alteration affects protein synthesis, they can lead to various consequences.Point mutations fall into the following types:Silent mutations occur when a nucleotide change does not alter the amino acid sequence due to the redundancy of the genetic code. For instance, changing ACC to ACA still encodes threonine, leaving the protein function unaffected. This occurs because...
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Organisms are capable of detecting and fixing nucleotide mismatches that occur during DNA replication. This sophisticated process requires identifying the new strand and replacing the erroneous bases with correct nucleotides. Mismatch repair is coordinated by many proteins in both prokaryotes and eukaryotes.
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