Article
Western Database of Lipid Variants (WDLV): a catalogue of genetic variants in monogenic dyslipidemias.
The Canadian journal of cardiology - 1 Aug 2013
Fu Jennifer, Kwok Samantha, Sinai Leah, Abdel-Razek Omar, Babula Janet, Chen Dennis, Farago Emma, Fernandopulle Nigel, Leith Sean, Loyzer Melissa, Lu Catherine, Malkani Niyati, Morris Nicole, Schmidt Mandi, Stringer Randa, Whitehead Heather, Ban Matthew R, Dubé Joseph B, McIntyre Adam, Johansen Christopher T, Cao Henian, Wang Jian, Hegele Robert A
Abstract excerpt
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...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.