Research Library

Peer-Reviewed publications and white papers from the Color team and our collaborators.

Articles

Peer-Reviewed Publications

Association of genetic variation with cirrhosis: a multi-trait genome-wide association and gene-environment interaction study
Gastroenterology (2020)

Multiplexed measurement of variant abundance and activity reveals VKOR topology, active site and human variant impact
eLife (2020)

Prevalence of Inherited Mutations in Breast Cancer Predisposition Genes among Uganda and Cameroon Women
Cancer Epidemiology, Biomarkers & Prevention (2020)

Points to consider when assessing relationships during family-based clinical genomic testing: a statement of the American College of Medical Genetics and Genomics (ACMG)
Genetics in Medicine (2020)

Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions
Nature Communications (2020)

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)

The “All of Us” Research Program
New England Journal of Medicine (2019)

Ethnic disparities among men with prostate cancer undergoing germline testing

Urologic Oncology: Seminars and Original Investigations (2019)

Low coverage whole genome sequencing enables accurate assessment of common variants and calculation of genome-wide polygenic scores
Genome Medicine (2019)

Characterization of splice-altering mutations in inherited predisposition to cancer

PNAS (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)

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)

ClinVar database of global familial hypercholesterolemia-associated DNA variants

Human Mutation (2018)

Standards and Guidelines for Validating Next-Generation Sequencing Bioinformatics Pipelines: A Joint Recommendation of the Association for Molecular Pathology and the College of American Pathologists
Journal of Molecular Diagnostics (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)