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Article

MAPPIN: a method for annotating, predicting pathogenicity and mode of inheritance for nonsynonymous variants.

Nucleic acids research - 13 Oct 2017

Gosalia Nehal, Economides Aris N, Dewey Frederick E, Balasubramanian Suganthi

Abstract excerpt

Nonsynonymous single nucleotide variants (nsSNVs) constitute about 50% of known disease-causing mutations and understanding their functional impact is an area of active research. Existing algorithms predict pathogenicity of nsSNVs; however, they are unable to differentiate heterozygous, dominant disease-causing variants from heterozygous carrier variants that lead to disease only in the homozygous state. Here, we...

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PMID: 28977528
DOI: 10.1093/nar/gkx730
PMCID: PMC5737764

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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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