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Article

Ranking non-synonymous single nucleotide polymorphisms based on disease concepts.

Human genomics - 30 Jun 2014

Shihab Hashem A, Gough Julian, Mort Matthew, Cooper David N, Day Ian N M, Gaunt Tom R

Abstract excerpt

As the number of non-synonymous single nucleotide polymorphisms (nsSNPs) identified through whole-exome/whole-genome sequencing programs increases, researchers and clinicians are becoming increasingly reliant upon computational prediction algorithms designed to prioritize potential functional variants for further study. A large proportion of existing prediction algorithms are 'disease agnostic' but are...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 24980617
DOI: 10.1186/1479-7364-8-11
PMCID: PMC4083756

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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