- Cancer Genomics and Diagnostics
- Genetic factors in colorectal cancer
- Genomics and Rare Diseases
- Cardiomyopathy and Myosin Studies
- RNA Research and Splicing
- Cancer Cells and Metastasis
- Single-cell and spatial transcriptomics
LabCorp (United States)
2024
Invitae (United States)
2023
Highly sensitive molecular assays have been developed to detect plasma-based circulating tumor DNA (ctDNA), and emerging evidence suggests their clinical utility for monitoring minimal residual disease recurrent disease, providing prognostic information, therapy responses in patients with solid tumors. The Invitae Personalized Cancer Monitoring™ assay uses a patient-specific, tumor-informed variant signature identified through whole exome sequencing ctDNA peripheral blood of assay's...
Detection of molecular residual disease (MRD) allows for the identification breast cancer patients at high-risk recurrence, with potential that early initiation treatment stages relapse could improve patient outcomes. The Invitae Personalized Cancer Monitoring™ assay (PCM) is a newly developed next-generation sequencing approach utilizes up to 50 patient-specific, tumor-informed DNA variants, detect circulating tumor (ctDNA). ability PCM MRD before clinical was evaluated. cohort included 61...
Abstract Introduction Advancements in sequencing technologies have significantly improved clinical genetic testing, yet the diagnostic yield remains around 30-40%. Emerging are now being deployed setting to address remaining gap. Methods We tested whether short-read genome could increase individuals enrolled into UCI-GREGoR research study, who had suspected Mendelian conditions and prior inconclusive testing. Two other collaborative cohorts, focused on aortopathy dilated cardiomyopathy,...