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Towards controlled terminology for reporting germline cancer susceptibility variants: an ENIGMA report

8 Apr 2019

Abstract excerpt

The vocabulary currently used to describe genetic variants and their consequences reflects many years of studying and discovering monogenic disease with high penetrance. With the recent rapid expansion of genetic testing brought about by wide availability of high-throughput massively parallel sequencing platforms, accurate variant interpretation has become a major issue. The vocabulary used to describe single...

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PMID: 30962250
DOI: 10.1136/jmedgenet-2018-105872

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