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Taming the genome: towards better genetic test interpretation
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Taming the genome: towards better genetic test interpretation GENOME MEDICINE Caleshu, C., Ashley, E. A. 2016; 8Abstract
Advances in sequencing technology have taught us much about the human genome, including how difficult it is to interpret rare variation. Improvements in genetic test interpretation are likely to come through data sharing, international collaborative efforts to develop disease-gene specific guidelines, and computational analyses using big data.
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