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Article

Classification of rare missense substitutions, using risk surfaces, with genetic- and molecular-epidemiology applications.

Human mutation - 1 Nov 2008

Tavtigian Sean V, Byrnes Graham B, Goldgar David E, Thomas Alun

Abstract excerpt

Many individually rare missense substitutions are encountered during deep resequencing of candidate susceptibility genes and clinical mutation screening of known susceptibility genes. BRCA1 and BRCA2 are among the most resequenced of all genes, and clinical mutation screening of these genes provides an extensive data set for analysis of rare missense substitutions. Align-GVGD is a mathematically simple missense...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 18951461
DOI: 10.1002/humu.20896
PMCID: PMC3938023

Genes

BRCA1
BRCA2
CHEK2

Provenance

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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