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Article

Shared genomic segment analysis: the power to find rare disease variants.

Annals of human genetics - 1 Nov 2012

Knight Stacey, Abo Ryan P, Abel Haley J, Neklason Deborah W, Tuohy Therese M, Burt Randall W, Thomas Alun, Camp Nicola J

Abstract excerpt

Shared genomic segment (SGS) analysis uses dense single nucleotide polymorphism genotyping in high-risk (HR) pedigrees to identify regions of sharing between cases. Here, we illustrate the power of SGS to identify dominant rare risk variants. Using simulated pedigrees, we consider 12 disease models based on disease prevalence, minor allele frequency and penetrance to represent disease loci that explain 0.2-99.8%...

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Identifiers

PMID: 22989048
DOI: 10.1111/j.1469-1809.2012.00728.x
PMCID: PMC3879794

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