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01-07-2014 | Cardiovascular Genomics (R McPherson, Section Editor)

Exome Sequencing: New Insights into Lipoprotein Disorders

Authors: Sali M. K. Farhan, Robert A. Hegele

Published in: Current Cardiology Reports | Issue 7/2014

Abstract

Several next generation sequencing platforms allow for a DNA-to-diagnosis protocol to identify the molecular basis of monogenic dyslipidemias. However, recent reports of the application of whole genome or whole exome sequencing in families with severe dyslipidemias have largely identified genetic variants in known lipid genes. To date, high-throughput DNA sequencing in families with previously uncharacterized monogenic dyslipidemias, have failed to reveal new genes for regulation of plasma lipids. This suggests that rather than sequencing whole genomes or exomes, most patients with monogenic dyslipidemias could be diagnosed using a more dedicated approach that focuses primarily on genes already known to act within lipoprotein metabolic pathways.

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Title: Exome Sequencing: New Insights into Lipoprotein Disorders
Authors: Sali M. K. Farhan
Robert A. Hegele
Publication date: 01-07-2014
Publisher: Springer US
Published in: Current Cardiology Reports / Issue 7/2014
Print ISSN: 1523-3782
Electronic ISSN: 1534-3170
DOI: https://doi.org/10.1007/s11886-014-0507-2

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Exome Sequencing: New Insights into Lipoprotein Disorders

Abstract

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

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