Article
Frequency and management of medically actionable incidental findings from genome and exome sequencing data: a systematic review.
Physiological genomics - 1 Sept 2021
Elfatih Amal, Mohammed Idris, Abdelrahman Doua, Mifsud Borbala
Abstract excerpt
The application of whole genome/exome sequencing technologies in clinical genetics and research has resulted in the discovery of incidental findings unrelated to the primary purpose of genetic testing. The American College of Medical Genetics and Genomics published guidelines for reporting pathogenic and likely pathogenic variants that are deemed to be medically actionable, which allowed us to learn about the...
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