The use of next-generation sequencing in clinical diagnosis of familial hypercholesterolemia | Zendy

Jana Vandrovcová | Zendy; Ellen Thomas | Zendy; Santosh S. Atanur | Zendy; Penny J. Norsworthy | Zendy; Clare Neuwirth | Zendy; Yvonne Tan | Zendy; Dalia Kasperavičiūtė | Zendy; Jennifer Biggs | Zendy; Laurence Gamé | Zendy; Michael Mueller | Zendy; Anne K. Soutar | Zendy; Timothy J. Aitman | Zendy

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The use of next-generation sequencing in clinical diagnosis of familial hypercholesterolemia

Author(s) -

Jana Vandrovcová,

Ellen Thomas,

Santosh S. Atanur,

Penny J. Norsworthy,

Clare Neuwirth,

Yvonne Tan,

Dalia Kasperavičiūtė,

Jennifer Biggs,

Laurence Gamé,

Michael Mueller,

Anne K. Soutar,

Timothy J. Aitman

Publication year - 2013

Publication title -

genetics in medicine

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 3.509

H-Index - 128

eISSN - 1530-0366

pISSN - 1098-3600

DOI - 10.1038/gim.2013.55

Subject(s) - familial hypercholesterolemia , mendelian inheritance , medicine , dna sequencing , cohort , mutation , genetic diagnosis , bioinformatics , genetics , gene , biology , cholesterol

Familial hypercholesterolemia is a common Mendelian disorder associated with early-onset coronary heart disease that can be treated by cholesterol-lowering drugs. The majority of cases in the United Kingdom are currently without a molecular diagnosis, which is partly due to the cost and time associated with standard screening techniques. The main purpose of this study was to test the sensitivity and specificity of two next-generation sequencing protocols for genetic diagnosis of familial hypercholesterolemia.

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