lunes, 13 de mayo de 2013

AJHG - Incidental Variants Are Critical for Genomics

AJHG - Incidental Variants Are Critical for Genomics

Copyright 2013 The American Society of Human Genetics All rights reserved.
The American Journal of Human Genetics, Volume 92, Issue 5, 648-651, 2 May 2013
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Incidental Variants Are Critical for Genomics

Leslie G. Biesecker1, Go To Corresponding Author,
1 National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
Corresponding author


The topic of incidental variants detected through exome and genome sequencing is controversial, both in clinical practice and in research. The arguments for and against the deliberate analysis and return of incidental variants focus on issues of clinical validity, clinical utility, autonomy, clinical and research infrastructure and costs, and, in the research arena, therapeutic misconception. These topics are briefly reviewed and an argument is made that these variants are the future of genomic medicine. As a field, we should take full advantage of all opportunities to study these variants by searching them out, returning them to patients and research participants, and studying their utility for predictive medicine.

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