Title |
Cost effective assay choice for rare disease study designs
|
---|---|
Published in |
Orphanet Journal of Rare Diseases, February 2015
|
DOI | 10.1186/s13023-015-0226-9 |
Pubmed ID | |
Authors |
Desmond D Campbell, Robert M Porsch, Stacey S Cherny, Valeria Capra, Elisa Merello, Patrizia De Marco, Pak C Sham, Maria-Mercè Garcia-Barceló |
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. |
X Demographics
Geographical breakdown
Country | Count | As % |
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Unknown | 1 | 100% |
Demographic breakdown
Type | Count | As % |
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Scientists | 1 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 23 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Master | 6 | 26% |
Researcher | 4 | 17% |
Professor > Associate Professor | 3 | 13% |
Professor | 2 | 9% |
Student > Ph. D. Student | 2 | 9% |
Other | 5 | 22% |
Unknown | 1 | 4% |
Readers by discipline | Count | As % |
---|---|---|
Biochemistry, Genetics and Molecular Biology | 7 | 30% |
Medicine and Dentistry | 6 | 26% |
Nursing and Health Professions | 2 | 9% |
Agricultural and Biological Sciences | 2 | 9% |
Mathematics | 1 | 4% |
Other | 4 | 17% |
Unknown | 1 | 4% |