Multifactorial disease risk calculator: risk prediction for multifactorial disease pedigrees

Campbell, D. D. , Li, Y. and Sham, P. C. (2018) Multifactorial disease risk calculator: risk prediction for multifactorial disease pedigrees. Genetic Epidemiology, 42(2), pp. 130-133. (doi: 10.1002/gepi.22101) (PMID:29178360)

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Construction of multifactorial disease models from epidemiological findings and their application to disease pedigrees for risk prediction is nontrivial for all but the simplest of cases. Multifactorial Disease Risk Calculator is a web tool facilitating this. It provides a user-friendly interface, extending a reported methodology based on a liability-threshold model. Multifactorial disease models incorporating all the following features in combination are handled: quantitative risk factors (including polygenic scores), categorical risk factors (including major genetic risk loci), stratified age of onset curves, and the partition of the population variance in disease liability into genetic, shared, and unique environment effects. It allows the application of such models to disease pedigrees. Pedigree-related outputs are (i) individual disease risk for pedigree members, (ii) n year risk for unaffected pedigree members, and (iii) the disease pedigree's joint liability distribution. Risk prediction for each pedigree member is based on using the constructed disease model to appropriately weigh evidence on disease risk available from personal attributes and family history. Evidence is used to construct the disease pedigree's joint liability distribution. From this, lifetime and n year risk can be predicted. Example disease models and pedigrees are provided at the website and are used in accompanying tutorials to illustrate the features available. The website is built on an R package which provides the functionality for pedigree validation, disease model construction, and risk prediction. Website:

Item Type:Articles
Additional Information:This work was supported by the European Community's Seventh Framework Programme grant HEALTH-F2-2010-241909 (Project EU-GEI).
Keywords:R package, web site, disease pedigree, liability threshold model, risk prediction, software.
Glasgow Author(s) Enlighten ID:Campbell, Dr Desmond
Authors: Campbell, D. D., Li, Y., and Sham, P. C.
College/School:College of Medical Veterinary and Life Sciences > School of Cardiovascular & Metabolic Health
Journal Name:Genetic Epidemiology
ISSN (Online):1098-2272
Published Online:26 November 2017
Copyright Holders:Copyright © 2017 Wiley Periodicals, Inc.
First Published:First published in Genetic Epidemiology 42(2):130-133
Publisher Policy:Reproduced in accordance with the copyright policy of the publisher

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