Finding the Rare Pathogenic Variants in a Human Genome

• Autores: James P. Evans, Jonathan S. Berg, Bradford C. Powell
• Localización: JAMA: the journal of the American Medical Association, ISSN 0098-7484, Vol. 317, Nº. 18, 2017, págs. 1904-1905
• Idioma: inglés
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• Resumen

  • Decreases in the cost of DNA sequencing have enabled substantial progress in fields ranging from archaeology and evolution to basic biomedical science. Concomitantly, there have been calls for routine genome-scale sequencing of healthy individuals in hopes of discovering clinically important information. For example, discovery of a high risk of breast and ovarian cancer due to a BRCA1/2 mutation can enable aggressive surveillance or risk-reducing surgery.