Article
Increasing precision in medicine - tackling the bottleneck of variant interpretation.
Drugs of today (Barcelona, Spain : 1998) - 1 Jul 2016
Baker M
Abstract excerpt
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 inter¬pretation, define which variants are actionable, and with time speak...
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