Variability in assigning pathogenicity to incidental findings: insights from LDLR sequence linked to the electronic health record in 1013 individuals
Year: 2017
Type: article
Institution: Mayo Clinic
Language: English
Topic: Genomics and Rare Diseases
Subfield: Genetics
Domain: Life Sciences
Open Access status: green
Funders: Mayo Clinic, American Heart Association, National Institutes of Health, Center for Individualized Medicine, Mayo Clinic, National Institute on Aging, National Heart, Lung, and Blood Institute, National Human Genome Research Institute, National Cancer Institute, National Institute of General Medical Sciences
Awards: Multimorbidity and Aging: Rochester Epidemiology Project, EHR-based Genomic Discovery and Implementation, EMR Phenotypes and Community Engaged Genomic Associations, G1728836492, G2217221961, Pharmacogenomics and Risk of Cardiovascular Disease, Pharmacogenetics of Phase II Drug Metabolizing Enzymes, Rapid identification of familial hypercholesterolemia in electronic health records, Inherited Variations In Drug Metabolizing Enzymes, G5489201059, NEXT GENERATION SEQUENCING ADD-ON-PHARMACOGENOMICS RESEARCH NETWROK (PGRN), Pharmacogenomics and Mechanisms of Cytidine Analogues, G7216233173, G7534386265, G7546224003, Pharmacogenomics of Breast Cancer Adjuvant Chemotherapy, G7944691554, G824560934
OpenAlex ID: W2585527171