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An Ensemble Approach to Predict the Pathogenicity of Synonymous Variants
2020
Genes
Single-nucleotide variants (SNVs) are a major form of genetic variation in the human genome that contribute to various disorders. There are two types of SNVs, namely non-synonymous (missense) variants (nsSNVs) and synonymous variants (sSNVs), predominantly involved in RNA processing or gene regulation. sSNVs, unlike missense or nsSNVs, do not alter the amino acid sequences, thereby making challenging candidates for downstream functional studies. Numerous computational methods have been
doi:10.3390/genes11091102
pmid:32967157
pmcid:PMC7565489
fatcat:qzixkbxgevdflklaleih5xosfu