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Article

PhD-SNPg: a webserver and lightweight tool for scoring single nucleotide variants.

Nucleic acids research - 3 Jul 2017

Capriotti Emidio, Fariselli Piero

Abstract excerpt

One of the major challenges in human genetics is to identify functional effects of coding and non-coding single nucleotide variants (SNVs). In the past, several methods have been developed to identify disease-related single amino acid changes but only few tools are able to score the impact of non-coding variants. Among the most popular algorithms, CADD and FATHMM predict the effect of SNVs in non-coding regions...

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Identifiers

PMID: 28482034
DOI: 10.1093/nar/gkx369
PMCID: PMC5570245

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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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