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

Kosta, K., Sabroe, I., Göke, J., Nibbs, R. J.D. , Tsanakas, J., Whyte, M. K. and Teare, M. D. (2007) A Bayesian approach to copy-number-polymorphism analysis in nuclear pedigrees. American Journal of Human Genetics, 81(4), pp. 808-812. (doi: 10.1086/520096)

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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 allele-based system segregating through the pedigree. This approach can be readily applied to the study of any form of genetic measure, and the construction permits extension to a wide variety of hypothesis tests. We have implemented the basic model for use with nuclear families, and we illustrate its application through an analysis of the CNP located in gene CCL3L1 in 201 families with asthma.

Item Type:Articles
Status:Published
Refereed:Yes
Glasgow Author(s) Enlighten ID:Nibbs, Professor Rob and Sabroe, Dr Ian
Authors: Kosta, K., Sabroe, I., Göke, J., Nibbs, R. J.D., Tsanakas, J., Whyte, M. K., and Teare, M. D.
College/School:College of Medical Veterinary and Life Sciences
College of Medical Veterinary and Life Sciences > Institute of Infection Immunity and Inflammation
Journal Name:American Journal of Human Genetics
Journal Abbr.:AJHG
Publisher:Elsevier
ISSN:0002-9297
ISSN (Online):1537-6605

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