Increasing precision in medicine - tackling the bottleneck of variant interpretation.

• Autores: Brian M. Baker
• Localización: Medicamentos de actualidad = Drugs of today, ISSN 1699-3993, Vol. 52, Nº. 7, 2016, págs. 395-398
• Idioma: inglés
• Texto completo no disponible (Saber más ...)
• Resumen

  • If raw DNA sequencing data gave biological insights, there would be no more need for innovation. Interpreting genetic variants at scale continues to challenge evidence-based medicine. Whether using proprietary databases of variant reference content or crowd sourced data, one has to be able to assign some level of confidence to his or her interpretation, define which variants are actionable, and with time speak to the clinical utility of the use of the biomarker.