Workflow
Shallow whole genome sequencing (sWGS) analysis of plasma cell-free DNA samples can generate insights into mechanisms and biomarkers for cancer detection and monitoring, prenatal diagnostics, transplant monitoring and other disease areas. While sWGS yield limits depth at individual loci, it enables aggregate analysis across the genome, and can identify features such as differences in copy number, fragmentation patterns, mutation signatures, aggregate shifts in single nucleotide variants and sequence end motifs.
These workflows are based on experiences in the Murtaza lab at CPM, who recently developed laboratory and computational workflows for plasma DNA fragmentation analysis for cancer detection (Budhraja et al. Science Translational Medicine 2023, https://www.science.org/doi/10.1126/scitranslmed.abm6863 and Marcinak et al. medRxiv 2024, https://www.medrxiv.org/content/10.1101/2024.12.13.24318579v1.full).
Potential Applications
- Cancer detection and response monitoring
- Prenatal diagnostics
- Monitoring of organ transplant recipients
- Diagnostics for acute and chronic diseases
Plasma DNA sequencing and fragmentomics Contacts
Eddie Dominguez, Ph.D
Email:
researchservice
Address:
CRS Scientific Lead
