Cost effective assay choice for rare disease study designs

Campbell, D. D. , Porsch, R. M., Cherny, S. S., Capra, V., Merello, E., De Marco, P., Sham, P. C. and Garcia-Barceló, M.-M. (2015) Cost effective assay choice for rare disease study designs. Orphanet Journal of Rare Diseases, 10(1), p. 10. (doi: 10.1186/s13023-015-0226-9) (PMID:25648394) (PMCID:PMC4334400)

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High throughput assays tend to be expensive per subject. Often studies are limited not so much by the number of subjects available as by assay costs, making assay choice a critical issue. We have developed a framework for assay choice that maximises the number of true disease causing mechanisms ‘seen’, given limited resources. Although straightforward, some of the ramifications of our methodology run counter to received wisdom on study design. We illustrate our methodology with examples, and have built a website allowing calculation of quantities of interest to those designing rare disease studies.

Item Type:Articles (Letter)
Additional Information:This work was supported by the research grant from the Hong Kong Research Grants Council HKU 7666/11 M to MGB, the HKU seed funding programme for basic research 201010159012 to MGB and HKU Small Project Funding grant 201209176012 to DC. Support was also received from the University of Hong Kong Strategic Research Theme on Genomics, and the European Community’s Seventh Framework Programme grant HEALTH-F2-2010-241909 (Project EU-GEI).
Glasgow Author(s) Enlighten ID:Campbell, Dr Desmond
Authors: Campbell, D. D., Porsch, R. M., Cherny, S. S., Capra, V., Merello, E., De Marco, P., Sham, P. C., and Garcia-Barceló, M.-M.
College/School:College of Medical Veterinary and Life Sciences > School of Cardiovascular & Metabolic Health
Journal Name:Orphanet Journal of Rare Diseases
Publisher:BioMed Central
ISSN (Online):1750-1172
Copyright Holders:Copyright © 2015 Campbell et al.
First Published:First published in Orphanet Journal of Rare Diseases 10:10
Publisher Policy:Reproduced under a Creative Commons licence

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