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Article

Bayesian approach to discovering pathogenic SNPs in conserved protein domains.

Human mutation - 1 Aug 2004

Cai Zhaohui, Tsung Eric F, Marinescu Voichita D, Ramoni Marco F, Riva Alberto, Kohane Isaac S

Abstract excerpt

The success rate of association studies can be improved by selecting better genetic markers for genotyping or by providing better leads for identifying pathogenic single nucleotide polymorphisms (SNPs) in the regions of linkage disequilibrium with positive disease associations. We have developed a novel algorithm to predict pathogenic single amino acid changes, either nonsynonymous SNPs (nsSNPs) or missense...

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PMID: 15241800
DOI: 10.1002/humu.20063

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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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