Research Library
Peer-reviewed publications and white papers from the Color team.
Low coverage whole genome sequencing enables accurate assessment of common variants and calculation of genome-wide polygenic scores
Genome Medicine (2019)
Assessment of blind predictions of the clinical significance of BRCA1 and BRCA2 variant
Human Mutation (2019)
Multi-Gene Panel Testing of 23,179 Individuals for Hereditary Cancer Risk Identifies Pathogenic Variant Carriers Missed by Current Genetic Testing Guidelines
Journal of Molecular Diagnostics (2019)
A scalable, aggregated genotypic–phenotypic database for human disease variation
Database (2019)
Rare TP53 variant associated with Li-Fraumeni syndrome exhibits variable penetrance in a Saudi family
npj Genomic Medicine (2018)
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)
A machine learning model to determine the accuracy of variant calls in capture-based next generation sequencing
BMC Genomics (2018)
Inherited predisposition to breast and ovarian cancer in non-Jewish populations in Israel
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)