Article
Decoding the effects of synonymous variants.
Nucleic acids research - 16 Dec 2021
Zeng Zishuo, Aptekmann Ariel A, Bromberg Yana
Abstract excerpt
Synonymous single nucleotide variants (sSNVs) are common in the human genome but are often overlooked. However, sSNVs can have significant biological impact and may lead to disease. Existing computational methods for evaluating the effect of sSNVs suffer from the lack of gold-standard training/evaluation data and exhibit over-reliance on sequence conservation signals. We developed synVep (synonymous Variant...
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