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LipidSeq: a next-generation clinical resequencing...
Journal article

LipidSeq: a next-generation clinical resequencing panel for monogenic dyslipidemias[S]

Abstract

We report the design of a targeted resequencing panel for monogenic dyslipidemias, LipidSeq, for the purpose of replacing Sanger sequencing in the clinical detection of dyslipidemia-causing variants. We also evaluate the performance of the LipidSeq approach versus Sanger sequencing in 84 patients with a range of phenotypes including extreme blood lipid concentrations as well as additional dyslipidemias and related metabolic disorders. The panel …

Authors

Johansen CT; Dubé JB; Loyzer MN; MacDonald A; Carter DE; McIntyre AD; Cao H; Wang J; Robinson JF; Hegele RA

Journal

Journal of Lipid Research, Vol. 55, No. 4, pp. 765–772

Publisher

Elsevier

Publication Date

April 2014

DOI

10.1194/jlr.d045963

ISSN

0022-2275