@article{6c7f2ac5be4d44a39f124e211689b672,
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.",
keywords = "High-throughput assay, Rare disease, Study design, WES, WGS",
author = "Campbell, \{Desmond D.\} and Porsch, \{Robert M.\} and Cherny, \{Stacey S.\} and Valeria Capra and Elisa Merello and \{De Marco\}, Patrizia and Sham, \{Pak C.\} and Garcia-Barcel{\'o}, \{Maria Merc{\^e}\}",
note = "Publisher Copyright: {\textcopyright} 2015 Campbell et al.",
year = "2015",
doi = "10.1186/s13023-015-0226-9",
language = "אנגלית",
volume = "10",
journal = "Orphanet Journal of Rare Diseases",
issn = "1750-1172",
publisher = "BioMed Central Ltd.",
number = "1",
}