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Western Database of Lipid Variants (WDLV): A...
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