Scientific Publications
ACMG, March 2025
Assessing Breast Cancer Risk: A Comparative Analysis of Ancestry-Adjusted PRS Models in Women of Ashkenazi Jewish Heritage
Breast cancer PRS
ACMG, March 2025
Evaluating the Clinical Utility of a Cross-Ancestry Integrated Risk Score for Coronary Artery Disease Prevention
CAD iPRS
NPJ Cardiovascular Health, February 2025
Polygenic risk scores improve CAD risk prediction in individuals at borderline and intermediate clinical risk
CAD iPRS
ESHG, June 1-4 2024
Utility of Polygenic Risk Scores for Prediction of Incident Type 2 Diabetes
T2D iPRS
AACR, April 5-10 2024
Incorporating a Cross-Ancestry Polygenic Risk Score into a Clinical Model Improved Breast Cancer Risk Prediction in Women with Pathogenic Variants
Breast cancer PRS
ASHG, Nov 1-4 2023
Integration of polygenic risk scores with clinical factors improves 10-year risk prediction of coronary artery disease
CAD iPRS
ASHG, Sept 7-9 2023
Comprehensive characterization of FMR1 mutation status with combination short-read and nanopore long-read confirmation
Rare Disease
Journal of Translational Medicine, June 2023
Implementation of Nanopore sequencing as a pragmatic workflow for copy number variant confirmation in the clinic
LRS
ACMG, March 14-18 2023
Polygenic risk scores improve 10-year risk prediction of coronary artery disease in individuals at borderline and intermediate clinical risk
CAD iPRS
ACMG, March 14-18 2023
Whole-genome sequencing as a first assay has the potential to shorten diagnosis time for neurodevelopmental disorders
Rare Disease
Nature Medicine, March 2022
Whole-genome risk prediction of common diseases in human preimplantation embryos
PGT
AGBT General Meeting, February 6-9, 2023
Application of ONT long read sequencing to confirm microdeletions and microduplications in a clinical setting
Rare Disease
JCO Precision Oncology, Feb 2023
Integration of a Cross-Ancestry Polygenic Model With Clinical Risk Factors Improves Breast Cancer Risk Stratification
Breast cancer PRS
ASCO, 2022
Cross-ancestry Polygenic Risk Score for Breast Cancer Risk Assessment
Breast cancer PRS
ASHG, 2022
Improved Breast Cancer Risk Stratification by Integration of a Cross-ancestry Polygenic Model with Clinical Risk Factors
Breast cancer PRS
