Research Library
Peer-Reviewed publications and white papers from the Color team and our collaborators.
LEAP: Using machine learning to support variant classification in a clinical setting
Human Mutation (2020)
Patient acceptance of genetic testing for familial hypercholesterolemia in the CASCADE FH Registry
Journal of Clinical Lipidology (2020)
Burden of hereditary cancer susceptibility in unselected patients with pancreatic ductal adenocarcinoma referred for germline screening
Cancer Medicine (2020)
New England Journal of Medicine (2019)
Genome Medicine (2019)
Human Mutation (2019)
Journal of Molecular Diagnostics (2019)
Cascade Genetic Testing of Relatives for Hereditary Cancer Risk: Results of an Online Initiative
Journal of the National Cancer Institute (2019)
Identification of a novel GREM1 duplication in a patient with multiple colon polyps
Familial Cancer (2019)
Rare TP53 variant associated with Li-Fraumeni syndrome exhibits variable penetrance in a Saudi family
npj Genomic Medicine (2018)
A machine learning model to determine the accuracy of variant calls in capture-based next generation sequencing
BMC Genomics (2018)
Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach
Human Mutation (2018)
Journal of Molecular Diagnostics (2018)
Breast Cancer Research and Treatment (2017)
Multi-gene Panel Testing For Hereditary Cancer Predisposition In Unsolved High Risk Breast And Ovarian Cancer Patients
Breast Cancer Research and Treatment (2017)