Genes affecting ionizing radiation survival identified through combined exome sequencing and functional screening.

Abstract excerpt

The study of genetic syndromes characterized by sensitivity to DNA damaging agents has provided important insights into the mechanisms that maintain genome stability and identified novel targets for cancer therapies. Here, we used exome sequencing to study 51 unrelated individuals with previously reported hypersensitivity to ionizing radiation as well as a range of neurologic, immunologic, and developmental...

Topics

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• Exome
• Exome Sequencing
• Genetic Predisposition to Disease
• Mutation
• Radiation, Ionizing