Research Library

Research posters from the Color team.

Posters

Population-scale Genetic Testing and Risk Stratification

Common variant genetic background modifies risk of breast cancer among carriers of pathogenic germline risk variants
ASHG 2019

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

Polygenic risk is independent from the risk conferred by pathogenic variants in 12 known breast cancer genes
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

Cascade screening with a large, multi-gene panel test identifies high rate of incidental, clinically actionable findings
NSGC 2019

High satisfaction with genetic counseling using telephone-based delivery method for return of results: A pilot
NSGC 2019

Delivering high-quality, scalable genetic counseling in international settings: case studies from Trinidad and Tobago and the United Arab Emirates
ASHG 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

Impact of non-clinical genetic trait insights on clinical engagement in participants after clinical genetic testing
ASHG 2019

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

Incorporating multiple NGS read features enables detection of transposon insertions across the genome
ASHG 2017

Optimizations in target enrichment and bioinformatics enable sensitive detection of copy number variations in targeted NGS
ASHG 2017

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

Testing for three founder mutations in BRCA1 and BRCA2 in Ashkenazi Jewish individuals misses half of breast and ovarian cancer risk variants
ACMG 2017

Case Studies

A Complex Rearrangement in the LDLR Gene in a Patient with Familial Hypercholesterolemia and Severe Coronary Artery Disease
ACMG 2019

Novel GREM1 enhancer region duplications and associated phenotypes
ASHG 2018

Multi-gene Hereditary Cancer Panel Testing Identifies Mutations Unexpected Based on Family Pedigree: 4 Case Reports
NSGC 2017

Eight case studies of concurrent pathogenic mutations identified in hereditary breast and ovarian cancer gene panel
AONN+ 2016

Additional research

 

See peer-reviewed publications and white papers from the Color team >