Article
Exome sequencing identifies 2 rare variants for low high-density lipoprotein cholesterol in an extended family.
Circulation. Cardiovascular genetics - 1 Oct 2012
Reddy M V Prasad Linga, Iatan Iulia, Weissglas-Volkov Daphna, Nikkola Elina, Haas Blake E, Juvonen Miina, Ruel Isabelle, Ruel Miina Juvonen Isabelle, Sinsheimer Janet S, Genest Jacques, Pajukanta Päivi
Abstract excerpt
BACKGROUND: Exome sequencing is a recently implemented method to discover rare mutations for Mendelian disorders. Less is known about its feasibility to identify genes for complex traits. We used exome sequencing to search for rare variants responsible for a complex trait, low levels of serum high-density lipoprotein cholesterol (HDL-C). METHODS AND RESULTS: We conducted exome sequencing in a large...
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