Genetics in Medicine Archives
New clinical guidance issued for people at increased cancer risk due to PALB2 gene variance
May. 11, 2021—The American College of Medical Genetics and Genomics (ACMG) has released important new clinical practice guidance for the surveillance and treatment of patients with a gene variant that puts them at increased risk for cancer.
EHRs, biobanks and Mendelian diseases
Apr. 30, 2020—Electronic health records and biobanks can be effectively combined to detect and study Mendelian diseases such as cystic fibrosis.