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Article

Predicting the insurgence of human genetic diseases associated to single point protein mutations with support vector machines and evolutionary information.

Bioinformatics (Oxford, England) - 15 Nov 2006

Capriotti E, Calabrese R, Casadio R

Abstract excerpt

MOTIVATION: Human single nucleotide polymorphisms (SNPs) are the most frequent type of genetic variation in human population. One of the most important goals of SNP projects is to understand which human genotype variations are related to Mendelian and complex diseases. Great interest is focused on non-synonymous coding SNPs (nsSNPs) that are responsible of protein single point mutation. nsSNPs can be neutral or...

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PMID: 16895930
DOI: 10.1093/bioinformatics/btl423

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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