A Bayesian approach to copy-number-polymorphism analysis in nuclear pedigrees.

ABSTRACT: Segmental copy-number polymorphisms (CNPs) represent a significant component of human genetic variation and are likely to contribute to disease susceptibility. These potentially multiallelic and highly polymorphic systems present new challenges to family-based genetic-analysis tools that commonly assume codominant markers and allow for no genotyping error. The copy-number quantitation (CNP phenotype) represents the total number of segmental copies present in an individual and provides a means to infer, rather than to observe, the underlying allele segregation. We present an integrated approach to meet these challenges, in the form of a graphical model in which we infer the underlying CNP phenotype from the (single or replicate) quantitative measure within the analysis while assuming an all

SUBMITTER: Kosta K 

PROVIDER: S-EPMC2227930 | biostudies-literature | 2007 Oct

REPOSITORIES: biostudies-literature