title: 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.
authors.affiliation: Department of Biochemistry, Robarts Research Institute, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada, N6A 5B7.
authors.forename: Sali M K
authors.initials: SM
authors.lastname: Farhan
authors.forename: Robert A
authors.initials: RA
authors.lastname: Hegele
mesh_terms: D050171:Dyslipidemias / Q000235:genetics*; D059472:Exome / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D006801:Humans; D009154:Mutation; D017422:Sequence Analysis, DNA / Q000379:methods*