We use cookies to improve your experience. By continuing to browse this site, you accept our cookie policy.×
Skip main navigation
Aging Health
Bioelectronics in Medicine
Biomarkers in Medicine
Breast Cancer Management
CNS Oncology
Colorectal Cancer
Concussion
Epigenomics
Future Cardiology
Future Medicine AI
Future Microbiology
Future Neurology
Future Oncology
Future Rare Diseases
Future Virology
Hepatic Oncology
HIV Therapy
Immunotherapy
International Journal of Endocrine Oncology
International Journal of Hematologic Oncology
Journal of 3D Printing in Medicine
Lung Cancer Management
Melanoma Management
Nanomedicine
Neurodegenerative Disease Management
Pain Management
Pediatric Health
Personalized Medicine
Pharmacogenomics
Regenerative Medicine

Between hype and hope: whole-genome sequencing in clinical medicine

    Iris Schrijver

    * Author for correspondence

    Departments of Pathology & Pediatrics, L235, Stanford University Medical Center, 300 Pasteur Drive, Stanford, CA 94305, USA and Center for Genomics & Personalized Medicine, Stanford University Medical Center, Stanford, CA, USA.

    &
    Stephen J Galli

    Center for Genomics & Personalized Medicine, Stanford University Medical Center, Stanford, CA, USA and Departments of Pathology & Microbiology & Immunology, Stanford University Medical Center, Stanford, CA, USA

    Published Online:https://doi.org/10.2217/pme.11.76
    Free first page

    References

    • Shendure J, Ji H. Next-generation DNA sequencing. Nat. Biotechnol.26(10),1135–1145 (2008).
    • Ng SB, Turner EH, Robertson PD et al. Targeted capture and massively parallel sequencing of 12 human exomes. Nature461(7261),272–276 (2009).
    • Lupski JR, Reid JG, Gonzaga-Jauregui C et al. Whole-genome sequencing in a patient with charcot-marie-tooth neuropathy. N. Engl. J. Med.362(13),1181–1191 (2010).
    • Pleasance ED, Cheetham RK, Stephens PJ et al. A comprehensive catalogue of somatic mutations from a human cancer genome. Nature463(7278),191–196 (2010).
    • Voelkerding KV, Dames SA, Durtschi JD. Next-generation sequencing: from basic research to diagnostics. Clin. Chem.55(4),641–658 (2009).
    • Khoury MJ, Mcbride CM, Schully SD et al. The scientific foundation for personal genomics: recommendations from a national institutes of health-centers for disease control and prevention multidisciplinary workshop. Genet. Med.11(8),559–567 (2009).
    • Ashley EA, Butte AJ, Wheeler MT et al. Clinical assessment incorporating a personal genome. Lancet375(9725),1525–1535 (2010).
    • Mcguire AL, Burke W. An unwelcome side effect of direct-to-consumer personal genome testing: raiding the medical commons. JAMA300(22),2669–2671 (2008).
    • Tucker T, Marra M, Friedman JM. Massively parallel sequencing: the next big thing in genetic medicine. Am. J. Hum. Genet.85(2),142–154 (2009).
    • 10  Samani NJ, Tomaszewski M, Schunkert H. The personal genome – the future of personalised medicine? Lancet375(9725),1497–1498 (2010).
    • 11  Bolouri H. Computational challenges of personal genomics. Curr. Genomics9(2),80–87 (2008).
    • 12  Kohane IS, Masys DR, Altman RB. The incidentalome: a threat to genomic medicine. JAMA296(2),212–215 (2006).
    • 13  Ashcroft RE. Human rights and ethics in genomic research: rethinking the model. Pharmacogenomics8(4),391–395 (2007).
    • 14  Tonellato PJ, Crawford JM, Boguski MS, Saffitz JE. A national agenda for the future of pathology in personalized medicine: report of the proceedings of a meeting at the Banbury conference center on genome-era pathology, precision diagnostics, and preemptive care: a stakeholder summit. Am. J. Clin. Pathol.135(5),668–672 (2011).