Article

Decoding the effects of synonymous variants

2021-05-22

Abstract excerpt

<h4>ABSTRACT</h4> 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 (synony...

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Literature Corpus work: 167f4757-e512-551a-84f5-51bad84f7c09
DOI: 10.1101/2021.05.20.445019

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