Genotype-phenotype correlation--promiscuity in the era of next-generation sequencing.

Authors:
Dr. Philippe M Campeau, MD, FCCMG
Dr. Philippe M Campeau, MD, FCCMG
University of Montreal
Canada

N Engl J Med 2014 Aug;371(7):593-6

From the Human Genome Sequencing Center and the Department of Structural and Computational Biology and Molecular Biophysics (J.T.L.), and the Department of Molecular and Human Genetics (B.H.L)., Baylor College of Medicine; and the Howard Hughes Medical Institutes (B.H.L.) - both in Houston; and the Medical Genetics Service, Department of Pediatrics, Sainte-Justine Hospital, University of Montreal, Montreal (P.M.C.).

Newly cost-effective next-generation sequencing has led to an explosion of discoveries of novel genetic mutations that reveal the rampant "promiscuity" of genotype-phenotype relationships. Such discoveries should ultimately revolutionize clinical care.

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Source
http://dx.doi.org/10.1056/NEJMp1400788DOI Listing
August 2014
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15 Citations
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