Journal article
Western Database of Lipid Variants (WDLV): A Catalogue of Genetic Variants in Monogenic Dyslipidemias
Abstract
BACKGROUND: Next-generation sequencing (NGS) is nearing routine clinical application, especially for diagnosis of rare monogenic cardiovascular diseases. But NGS uncovers so much variation in an individual genome that filtering steps are required to streamline data management. The first step is to determine whether a potential disease-causing variant has been observed previously in affected patients.
METHODS: To facilitate this step for lipid …
Authors
Fu J; Kwok S; Sinai L; Abdel-Razek O; Babula J; Chen D; Farago E; Fernandopulle N; Leith S; Loyzer M
Journal
Canadian Journal of Cardiology, Vol. 29, No. 8, pp. 934–939
Publisher
Elsevier
Publication Date
August 2013
DOI
10.1016/j.cjca.2013.01.008
ISSN
0828-282X