Cost effective assay choice for rare disease study designs

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

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Article number13023
JournalOrphanet Journal of Rare Diseases
Issue number1
Publication statusPublished - 2015


  • High-throughput assay
  • Rare disease
  • Study design
  • WES
  • WGS

ASJC Scopus subject areas

  • Medicine(all)
  • Genetics(clinical)
  • Pharmacology (medical)


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