Genetics in Medicine (journal) Archive — Page 1 of 1

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January 8, 2025

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.

Silhouette of a person facing a glowing DNA double helix, overlaid with floating binary digits in a blue-toned digital composition.
April 30, 2020

EHRs, biobanks and Mendelian diseases

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