title: Cost effective assay choice for rare disease study designs.
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.
authors: Department of Psychiatry, University of Hong Kong, Hong Kong, SAR, China. ddc123@hku.hk.|Centre for Genomic Sciences, University of Hong Kong, Hong Kong, SAR, China. ddc123@hku.hk.
authors: Desmond D
authors: DD
authors: Campbell
authors: Department of Psychiatry, University of Hong Kong, Hong Kong, SAR, China. robert.porsch@hku.hk.
authors: Robert M
authors: RM
authors: Porsch
authors: Department of Psychiatry, University of Hong Kong, Hong Kong, SAR, China. cherny@hku.hk.|Centre for Genomic Sciences, University of Hong Kong, Hong Kong, SAR, China. cherny@hku.hk.|State Key Laboratory of Brain and Cognitive Sciences, University of Hong Kong, Hong Kong, SAR, China. cherny@hku.hk.
authors: Stacey S
authors: SS
authors: Cherny
authors: Istituto Giannina Gaslini, Genoa, Italy. valeriacapra@ospedale-gaslini.ge.it.
authors: Valeria
authors: V
authors: Capra
authors: Istituto Giannina Gaslini, Genoa, Italy. elisamerello@ospedale-gaslini.ge.it.
authors: Elisa
authors: E
authors: Merello
authors: Istituto Giannina Gaslini, Genoa, Italy. patriziademarco@ospedale-gaslini.ge.it.
authors: Patrizia
authors: P
authors: De Marco
authors: Department of Psychiatry, University of Hong Kong, Hong Kong, SAR, China. pcsham@hku.hk.|Centre for Genomic Sciences, University of Hong Kong, Hong Kong, SAR, China. pcsham@hku.hk.
authors: Pak C
authors: PC
authors: Sham
authors: Department of Surgery, University of Hong Kong, Hong Kong, SAR, China. mmgarcia@hku.hk.
authors: Maria-Mercè
authors: MM
authors: Garcia-Barceló
mesh_terms: D003362:Cost-Benefit Analysis; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study / Q000191:economics*; D006801:Humans; D009154:Mutation; D035583:Rare Diseases / Q000175:diagnosis* / Q000235:genetics*
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