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Exome Sequencing: New Insights into Lipoprotein Disorders

  • Cardiovascular Genomics (R McPherson, Section Editor)
  • Published:
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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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Acknowledgments

Supported by the Jacob J. Wolfe Distinguished Medical Research Chair, the Edith Schulich Vinet Canada Research -Chair in Human Genetics, the Martha G. Blackburn Chair in Cardiovascular Research, and operating grants from the CIHR (MOP-13430, MOP-79523), the Heart and Stroke Foundation of Ontario (NA-6059, T-000353) and Genome Canada through Genome Quebec award 4530.

Compliance with Ethics Guidelines

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Conflict of Interest

Sali M.K. Farhan and Robert A. Hegele declare that they have no conflict of interest.

Human and Animal Rights and Informed Consent

This article does not contain any studies with human or animal subjects performed by any of the authors.

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Authors and Affiliations

  1. Department of Biochemistry, Robarts Research Institute, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada, N6A 5B7

    Sali M. K. Farhan & Robert A. Hegele

  2. Department of Medicine, Robarts Research Institute, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada, N6A 5B7

    Sali M. K. Farhan & Robert A. Hegele

  3. Blackburn Cardiovascular Genetics Laboratory, Robarts Research Institute, Western University, 4288A-1151 Richmond Street North, London, Ontario, Canada, N6A 5B7

    Robert A. Hegele

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  1. Sali M. K. Farhan
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Correspondence to Robert A. Hegele.

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This article is part of the Topical Collection on Cardiovascular Genomics

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Farhan, S.M.K., Hegele, R.A. Exome Sequencing: New Insights into Lipoprotein Disorders. Curr Cardiol Rep 16, 507 (2014). https://doi.org/10.1007/s11886-014-0507-2

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  • DOI: https://doi.org/10.1007/s11886-014-0507-2

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