Article ID Journal Published Year Pages File Type
5588968 European Journal of Medical Genetics 2017 18 Pages PDF
Abstract
We found a relevant discrepancy in variant classification by using in-silico prediction tools, resulting in potential overestimation and/or underestimation of cancer risk. More reliable, notably gene-specific, prediction tools and functional tests are needed to improve clinical counseling.
Related Topics
Life Sciences Biochemistry, Genetics and Molecular Biology Genetics
Authors
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