Article
Next generation sequencing is informing phenotype: a TP53 example.
Familial cancer - 1 Jan 2018
O'Shea R, Clarke R, Berkley E, Giffney C, Farrell M, O'Donovan E, Gallagher D J
Abstract excerpt
The increased availability of next generation sequencing (NGS) and multi gene panel testing has resulted in more frequent TP53 testing of families that do not meet classic testing criteria. We investigated testing criteria, family history and result outcome in a cohort of Irish probands undergoing TP53 full sequencing. All TP53 test requests processed through the national genetic testing laboratory between 2012...
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