File Download
  Links for fulltext
     (May Require Subscription)
Supplementary

Article: Cost effective assay choice for rare disease study designs

TitleCost effective assay choice for rare disease study designs
Authors
Issue Date2015
PublisherBioMed Central Ltd. The Journal's web site is located at http://www.ojrd.com
Citation
Orphanet Journal of Rare Diseases, 2015, v. 10 n. 1 How to Cite?
AbstractHigh 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.
Persistent Identifierhttp://hdl.handle.net/10722/208719
ISSN
2015 Impact Factor: 3.29
2015 SCImago Journal Rankings: 1.704
PubMed Central ID
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorCampbell, DD-
dc.contributor.authorPORSCH, RM-
dc.contributor.authorCherny, SS-
dc.contributor.authorCapra, V-
dc.contributor.authorMerello, E-
dc.contributor.authorDe Marco, P-
dc.contributor.authorSham, PC-
dc.contributor.authorGarcia-Barcelo, MM-
dc.date.accessioned2015-03-18T09:06:35Z-
dc.date.available2015-03-18T09:06:35Z-
dc.date.issued2015-
dc.identifier.citationOrphanet Journal of Rare Diseases, 2015, v. 10 n. 1-
dc.identifier.issn1750-1172-
dc.identifier.urihttp://hdl.handle.net/10722/208719-
dc.description.abstractHigh 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.-
dc.languageeng-
dc.publisherBioMed Central Ltd. The Journal's web site is located at http://www.ojrd.com-
dc.relation.ispartofOrphanet Journal of Rare Diseases-
dc.rightsOrphanet Journal of Rare Diseases. Copyright © BioMed Central Ltd.-
dc.rightsCreative Commons: Attribution 3.0 Hong Kong License-
dc.titleCost effective assay choice for rare disease study designs-
dc.typeArticle-
dc.identifier.emailCampbell, DD: ddc123@hku.hk-
dc.identifier.emailCherny, SS: cherny@hku.hk-
dc.identifier.emailSham, PC: pcsham@hku.hk-
dc.identifier.emailGarcia-Barcelo, MM: mmgarcia@hku.hk-
dc.identifier.authorityCherny, SS=rp00232-
dc.identifier.authoritySham, PC=rp00459-
dc.identifier.authorityGarcia-Barcelo, MM=rp00445-
dc.description.naturepublished_or_final_version-
dc.identifier.doi10.1186/s13023-015-0226-9-
dc.identifier.pmid25648394-
dc.identifier.pmcidPMC4334400-
dc.identifier.scopuseid_2-s2.0-84924116533-
dc.identifier.hkuros242615-
dc.identifier.volume10-
dc.identifier.issue1-
dc.identifier.spagearticle no. 10-
dc.identifier.epagearticle no. 10-
dc.identifier.isiWOS:000350960500001-
dc.publisher.placeUnited Kingdom-

Export via OAI-PMH Interface in XML Formats


OR


Export to Other Non-XML Formats