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A classification system for clinical relevance of somatic variants identified in molecular profiling of cancer.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Feb 2016

Sukhai Mahadeo A, Craddock Kenneth J, Thomas Mariam, Hansen Aaron R, Zhang Tong, Siu Lillian, Bedard Philippe, Stockley Tracy L, Kamel-Reid Suzanne

Abstract excerpt

PURPOSE: Interpretation systems for clinical laboratory reporting of genetic variants for inherited conditions have been widely published. By contrast, there are no existing systems for interpretation and classification of somatic variants found from molecular testing of cancer. METHODS: We designed an assessment protocol and classification system for somatic variants identified through next-generation sequencing...

Topics

Breast Neoplasms
Cohort Studies
Colorectal Neoplasms
Genetic Techniques
Genetic Testing
Genetic Variation
Humans
Neoplasms
Pilot Projects

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PMID: 25880439
DOI: 10.1038/gim.2015.47

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