View peer-reviewed publications, white
papers, and posters from the Color team
and our collaborators.
Peer-Reviewed Publications
Overcoming Barriers to Discovery and Implementation of Equitable Pharmacogenomic Testing in Oncology
(J Clin. Oncol., 2023)
Treatment for graduate students: Blunting the emotional toll of postgraduate education
(J Consult Clin Psychol., 2023)
From “surviving to thriving”: Mood Lifters – a wellness program for parents of medically complex children
(Palliat. Support Care, 2023)
Internet-Based Germline Genetic Testing for Men With Metastatic Prostate Cancer
In collaboration with GENTleMEN Study (JCO Precis Oncol, 2023)
The GC Immersive: Patching the pipeline with genetic counseling experiences for all
(Journal of Genetic Counseling, 2023)
Remotely Delivered Cancer Genetic Testing in the Making Genetic Testing Accessible (MAGENTA) Trial: A Randomized Clinical Trial
(JAMA Oncology, 2023)
Clinical Implementation of Combined Monogenic and Polygenic Risk Disclosure for Coronary Artery Disease
In collaboration with Amit Khera and Sek Kathiresan (JACC, 2022)
Harmonizing variant classification for return of results in the All of Us Research Program
In collaboration with the All of Us Research Program (Human Mutation, 2022)
Mood Lifters: evaluation of a novel peer-led mental wellness program
(Ment. Health Rev. J., 2022)
Digital health-enabled genomics: Opportunities and challenges
In collaboration with the All of Us Research Program and 23andMe (AJHG, 2022)
Whole genome sequencing as an investigational device for return of hereditary disease risk and pharmacogenomic results as part of the All of Us Research Program
In collaboration with the All of Us Research Program (Genome Medicine, 2022)
Predominance of antibody-resistant SARS-CoV-2 variants in vaccine breakthrough cases from the San Francisco Bay Area, California
In collaboration with UCSF and CDPH (Nature Microbiology, 2022)
Novel Models of Genetic Education and Testing for Pancreatic Cancer Interception: Preliminary Results from the GENERATE Study
(Cancer Prevention Research, 2021)
Model-driven mitigation measures for reopening schools during the COVID-19 pandemic
(PNAS, 2021)
Responsible use of polygenic risk scores in the clinic: potential benefits, risks and gaps
(Nature Medicine, 2021)
Intronic Breakpoint Signatures Enhance Detection and Characterization of Clinically Relevant Germline Structural Variants
(Molecular Diagnostics, 2021)
Association of DNA variation with liver cirrhosis: a multi-trait genome-wide association and gene-environment interaction study
(Gastroenterology, 2020)
Color Data v2: a user-friendly, open access database with hereditary cancer and hereditary cardiovascular conditions datasets
Database (2020)
Association of genetic variation with cirrhosis: a multi-trait genome-wide association and gene-environment interaction study
Gastroenterology (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)
Technical Papers
Research Posters
Cancer Care
Virtual Cancer Clinic Drives Increased Adherence to Guidelines
IFEBP Art & Science of Health Promotion 2024
Population-scale Genetic Testing and Risk Stratification
Custom automated software tools increase genetic counseling follow-up task efficiency
NSGC 2020
An integrated end-to-end platform for engaged population-scale genomics
ASHG 2019
Preemptive PGx testing using NGS reveals rare, predicted LOF variants in TPMT and NUDT15
CPIC 2019
Missing Signals: Copy Number and Rare Loss of Function Variants in CYP2C19
CPIC 2019
Implementation of hereditary cancer genetic testing in the primary care setting
ACMG 2019
Genetic testing for the Tier 1 genomics conditions in a population-level cohort
ASHG 2018
Using low coverage sequencing for determining polygenic risk scores
ASHG 2018
Clinical Utility of a 30-gene Hereditary Cancer Risk Panel in a cohort of 23,179 Individuals
ACMG 2018
Health Outcomes
Participant screening behaviors and information sharing after genetic testing
ISPOR 2019
Breast and ovarian cancer screening behaviors and health outcomes after genetic testing
NSGC 2018
Genetic Counseling and Cascade Screening
Geographic barriers to genetic counseling for hereditary cancer and cardiovascular disease
NSGC 2019
The use of software can address workforce shortage and access barriers to genetic counseling
BRCA 2018
Hereditary cancer gene panel identifies 54 concurrent pathogenic mutation carriers
NSGC 2017
Software solutions increase efficiency of genetic counseling for hereditary cancer
NSGC 2016
Digital Tools and Ongoing Engagement
An Opportunity to Engage: Large-scale Research Outreach via Email Digest
NSGC 2022
Engagement and Feedback on Genetic Ancestry and Trait Results from > 100,000 All of Us Participants
ASHG 2022
Designing for inclusivity in population genomics
ACMG 2020
On second thought…Updates to personal and family history using an interactive online tool
NSGC 2018
Digital direct engagement is an effective method for communicating updated test results
ASHG 2018
Patient-friendly Reports: Incorporating Genetic Counselors into the Report Development Process
ACMG 2018
Laboratory, Bioinformatics, and Machine Learning
Detecting Copy Number Variation on Low Coverage Whole Genome Sequencing
ASHG 2019
Integrating DeepVariant into a clinical bioinformatics pipeline
ASHG 2018
Using Machine Learning to Support Variant Interpretation in a Clinical Setting
AGBT-PH 2018
Structural Variant Simulator Improves Variant Calling Accuracy in NGS
AMP Global 2017
Machine learning identifies high confidence variants in NGS
AGBT 2017
Engineering versatility, robustness and speed into a fully automated DNA extraction process
SLAS 2017
Scaling across orders of magnitude: Building cost-conscious automation for rapid growth
SLAS 2017
Gene-disease Associations
Phenotypic and Genotypic Spectrum Identified in a Cohort of Germline TP53 Carriers
ACMG 2019
Association of breast cancer by pathogenic CHEK2 variant type
NSGC 2018
Differential association of Lynch syndrome genes with colorectal and breast cancer
ASHG 2018
Cohort of 1039 Patients Supports a Role of ATM, CHEK2, and PALB2 in Hereditary Prostate Cancer
ACMG 2018
Mutation Spectrum Identified by Germline Testing in a Pancreatic Cancer Cohort
ACMG 2018
Preliminary experience on testing hereditary gastrointestinal tumor risk using multi-gene panel
InSiGHT 2017
Restrictive Testing Guidelines Miss Canadians at Risk of Hereditary Cancer
CAGC 2017
![](images/color-publications-playbook-1.jpg)
The Population Genomics Platform Playbook
A guide to build and scale a population genomics program in your health system.