Genetics in Medicine (journal)

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Worldwide experts release clinical recommendations for management of ATM cancer risk 

Researchers established decades ago that ataxia-telangiectasia mutated (ATM) heterozygotes are at an increased risk for cancer, there remains a need to provide clear guidance for clinicians.

EHRs, biobanks and Mendelian diseases

Electronic health records and biobanks can be effectively combined to detect and study Mendelian diseases such as cystic fibrosis.