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Open Access 01-12-2015 | Letter to the Editor

Cost effective assay choice for rare disease study designs

Authors: Desmond D Campbell, Robert M Porsch, Stacey S Cherny, Valeria Capra, Elisa Merello, Patrizia De Marco, Pak C Sham, Maria-Mercè Garcia-Barceló

Published in: Orphanet Journal of Rare Diseases | Issue 1/2015

Abstract

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.

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Title: Cost effective assay choice for rare disease study designs
Authors: Desmond D Campbell
Robert M Porsch
Stacey S Cherny
Valeria Capra
Elisa Merello
Patrizia De Marco
Pak C Sham
Maria-Mercè Garcia-Barceló
Publication date: 01-12-2015
Publisher: BioMed Central
Published in: Orphanet Journal of Rare Diseases / Issue 1/2015
Electronic ISSN: 1750-1172
DOI: https://doi.org/10.1186/s13023-015-0226-9

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Cost effective assay choice for rare disease study designs

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