AI and Machine Learning
Color Health and UCSF – AI Cancer Copilot Study
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Color Health and UCSF – AI Cancer Copilot Study
Universal Sequence Detection: A novel full spectrum variant genotyper for NGS data
LEAP: Using machine learning to support variant classification in a clinical setting
Integrating DeepVariant into a clinical bioinformatics pipeline
A machine learning model to determine the accuracy of variant calls in capture-based next generation sequencing
Using Machine Learning to Support Variant Interpretation in a Clinical Setting
Machine learning identifies high confidence variants in NGS
Assessing relationships during family-based clinical genomic testing: a statement from the ACMG
High satisfaction with genetic counseling: telephone-based delivery method for return of results
Cascade screening: large, multi-gene panel identifies high rate of incidental, clinically actionable findings
Geographic barriers to genetic counseling for hereditary cancer and cardiovascular disease
Cascade Genetic Testing of Relatives for Hereditary Cancer Risk: Results of an Online Initiative
The use of software can address workforce shortage and access barriers to genetic counseling
Hereditary cancer gene panel identifies 54 concurrent pathogenic mutation carriers
Software solutions increase efficiency of genetic counseling for hereditary cancer
Custom automated software tools increase genetic counseling follow-up task efficiency
An open access database with hereditary cancer and hereditary cardiovascular conditions datasets
A scalable, aggregated genotypic–phenotypic database for human disease variation
ClinVar database of global familial hypercholesterolemia-associated DNA variants
Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories
Standards and Guidelines for Validating Next-Generation Sequencing Bioinformatics Pipelines
Association of Genetic Variation With Cirrhosis: A Multi-Trait Genome-Wide Association and Gene-Environment Interaction Study
Low coverage WGS: accurate for assessing common variants and genome-wide polygenic scores
Phenotypic and Genotypic Spectrum Identified in a Cohort of Germline TP53 Carriers
Ethnic disparities among men with prostate cancer undergoing germline testing
Rare TP53 variant associated with Li-Fraumeni syndrome: variable penetrance in a Saudi family
Identification of a novel GREM1 duplication in a patient with multiple colon polyps
Missing risk variants: testing founder mutations in BRCA1 and BRCA2 in Ashkenazi Jewish individuals
Pathogenic mutations identified in hereditary breast and ovarian cancer gene panel
Hereditary Cancer Predisposition In Unsolved High Risk Breast And Ovarian Cancer Patients
Inherited predisposition to breast and ovarian cancer in non-Jewish populations in Israel
Cohort of 1039 Patients Supports a Role of ATM, CHEK2, and PALB2 in Hereditary Prostate Cancer
Differential association of Lynch syndrome genes with colorectal and breast cancer
Association of breast cancer by pathogenic CHEK2 variant type
Mutation Spectrum Identified by Germline Testing in a Pancreatic Cancer Cohort
Polygenic risk is independent from pathogenic risk variants in 12 known breast cancer genes
Assessment of blind predictions of the clinical significance of BRCA1 and BRCA2 variant
Common variants modify risk of breast cancer among carriers of pathogenic germline risk variants
Characterization of splice-altering mutations in inherited predisposition to cancer
Hereditary cancer susceptibility in pancreatic ductal adenocarcinoma referred for germline screening
Inherited Mutations in Breast Cancer Predisposition Genes among Uganda and Cameroon Women
Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions
Intronic Breakpoint Signatures Enhance Detection of Clinically Relevant Germline Structural Variants
Novel Models of Genetic Education and Testing for Pancreatic Cancer Interception
Clinical Implementation of Monogenic and Polygenic Risk Disclosure for Coronary Artery Disease
Pathways to Precision Cancer Care: Integrating Genetic Services into a Nationwide, Risk-Adjusted Cancer Program
Patient acceptance of genetic testing for familial hypercholesterolemia
A nationwide initiative to expand access to lung cancer screening
Sounding out solutions: using SONAR to connect participants with relevant healthcare resources
A virtual cancer clinic drives increased adherence to cancer screening guidelines in distributed populations
Equitable Pharmacogenomic Testing in Oncology
The GC Immersive: Patching the pipeline with genetic counseling experiences for all
Remotely Delivered Cancer Genetic Testing: Making Genetic Testing Accessible (MAGENTA) Trial
Internet-Based Germline Genetic Testing for Men With Metastatic Prostate Cancer
From “surviving to thriving”: a wellness program for parents of medically complex children
Color Cancer Connect: A peer-led, skills-focused support program for cancer survivors
Treatment for graduate students: Blunting the emotional toll of postgraduate education
Mood Lifters: evaluation of a novel peer-led mental wellness program
Improving access to cancer screening through national telehealth-based lung and colorectal cancer screening programs
Pathways to Precision Cancer Care: Integrating Genetic Services into a Nationwide, Risk-Adjusted Cancer Program
Virtual Cancer Screening and Support Program: Effective Management of Positive Cancer Screen Results
Measuring and Maximizing Outcomes in Population Genomic Screening: a High-Touch Recontact and Optimization Pilot
Responsible use of polygenic risk scores in the clinic: potential benefits, risks and gaps
Expecting the Unexpected: Hereditary Cancer and Cardiovascular Findings in an Employer-Sponsored Genetic Testing Program
Experience Delivering a 30 Gene Panel for Cardiovascular Disorders to Over 23,000 Individuals in an Unselected Population
Designing for inclusivity in population genomics
Detecting Copy Number Variation on Low Coverage Whole Genome Sequencing
Hereditary Cancer Risk: Pathogenic Variant Carriers Missed by Current Genetic Testing Guidelines
Preemptive PGx testing using NGS reveals novel predicted LOF variants in TPMT and NUDT15
Missing Signals: Copy Number and Rare Loss of Function Variants in CYP2C19
Implementation of hereditary cancer genetic testing in the primary care setting
Participant screening behaviors and information sharing after genetic testing
Genetic testing for the Tier 1 genomics conditions in a population-level cohort
Breast and ovarian cancer screening behaviors and health outcomes after genetic testing
All of Us: Integrating Genetic Counseling in the Return of Non-clinical Genetic Results
Digital health-enabled genomics: Opportunities and challenges
All of Us: Whole genome sequencing for hereditary disease risk and pharmacogenomic results
Antibody-resistant SARS-CoV-2 variants in vaccine breakthrough cases in SF Bay Area
Harmonizing variant classification for return of results in the All of Us Research Program
Model-driven mitigation measures for reopening schools during the COVID-19 pandemic
The “All of Us” Research Program