Clinical Genetics Branch Tools & Resources
Biomarker Tools
The Biomarker Tools set was developed by investigators in the Clinical Epidemiology Unit and the Biostatistics Branch to estimate risk stratification from early biomarker data and provide strategies to advance biomarkers or other risk measures to clinical or public health applications.
Familial Cancer Syndromes Summary
Clinical Genetics Branch experts collaborated with Mayo Clinic colleague Dr. Noralane Lindor, to produce the second edition of The Concise Handbook of Familial Cancer Susceptibility Syndromes, published as a Journal of the National Cancer Institute Monograph.
Automated Germline Variant Pathogenicity (AutoGVP)
Automated Germline Variant Pathogenicity (AutoGVP) was developed to integrate ClinVar variant annotation with a modified InterVar classification appraoch based on American College of Medical Genetics-Association for Molecular Pathology (ACMG-AMP) guidelines to output germline variant classification. Since AutoGVP input only requires a VCF file, it can facilitate large-scale, clinically focused classification of germline sequence variants. Using automated germline classification reduces hands-on time as well as allows for reproducibility of variant classification.
Useful Links
Cancer Genetics Overview (PDQ)
Elements of Cancer Genetics Risk Assessment and Counseling (PDQ)
Genetics of Breast and Ovarian Cancer (PDQ)
NCI Fact Sheet: Understanding Gene Testing