Exome sequencing: new insights into lipoprotein disorders.

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.

journal_name

Curr Cardiol Rep

authors

Farhan SM,Hegele RA

doi

10.1007/s11886-014-0507-2

subject

Has Abstract

pub_date

2014-07-01 00:00:00

pages

507

issue

7

eissn

1523-3782

issn

1534-3170

journal_volume

16

pub_type

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