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InMeRF: prediction of pathogenicity of missense variants by individual modeling for each amino acid substitution

26 May 2020

Abstract excerpt

Abstract In predicting the pathogenicity of a nonsynonymous single-nucleotide variant (nsSNV), a radical change in amino acid properties is prone to be classified as being pathogenic. However, not all such nsSNVs are associated with human diseases. We generated random forest (RF) models individually for each amino acid substitution to differentiate pathogenic nsSNVs in the Human Gene Mutation Database and common...

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PMID: 33543123
DOI: 10.1093/nargab/lqaa038

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