THE TRANSLATIONAL GENOMICS RESEARCH INSTITUTE (20240209455). ANALYSIS OF FRAGMENT ENDS IN DNA simplified abstract
Contents
ANALYSIS OF FRAGMENT ENDS IN DNA
Organization Name
THE TRANSLATIONAL GENOMICS RESEARCH INSTITUTE
Inventor(s)
Muhammed Murtaza of Phoenix AZ (US)
Karan K. Budhraja of Madison WI (US)
ANALYSIS OF FRAGMENT ENDS IN DNA - A simplified explanation of the abstract
This abstract first appeared for US patent application 20240209455 titled 'ANALYSIS OF FRAGMENT ENDS IN DNA
Simplified Explanation: The patent application discusses how analyzing fragmentation patterns in plasma DNA can reveal the presence of tumor DNA in blood, aiding in cancer diagnostics.
Key Features and Innovation:
- Analysis of genomic positioning and nucleotide sequence at fragment ends to detect tumor DNA in blood.
- Higher fractions of fragments with aberrantly positioned ends observed in cancer patients.
- Genome-wide analysis of fragment ends using machine learning for cancer detection.
- Robust results with as few as 1 million fragments analyzed per sample.
- Cost-effective and accessible approach for cancer detection and monitoring.
Potential Applications: This technology can be used in cancer diagnostics, monitoring, and personalized treatment strategies.
Problems Solved:
- Early detection of cancer through analysis of plasma DNA.
- Monitoring cancer progression and treatment response.
- Cost-effective and accessible method for cancer detection.
Benefits:
- Early detection of cancer leading to better treatment outcomes.
- Personalized treatment strategies based on tumor DNA analysis.
- Cost-effective and efficient cancer monitoring.
Commercial Applications: Potential commercial applications include diagnostic companies, healthcare providers, and research institutions looking to improve cancer detection and monitoring technologies.
Questions about Plasma DNA Analysis for Cancer Detection: 1. How does analyzing fragmentation patterns in plasma DNA differ between healthy individuals and cancer patients? 2. What are the implications of using machine learning for genome-wide analysis of fragment ends in cancer diagnostics?
Frequently Updated Research: Stay updated on the latest advancements in plasma DNA analysis for cancer detection and monitoring to ensure the most accurate and effective results.
Original Abstract Submitted
fragmentation patterns observed in plasma dna reflect chromatin accessibility in contributing cells. since dna shed from cancer cells and blood cells may differ in fragmentation patterns, we investigated whether analysis of genomic positioning and nucleotide sequence at fragment ends can reveal the presence of tumor dna in blood and aid cancer diagnostics. whole genome sequencing data from >2700 plasma dna samples including healthy individuals and patients with 11 different cancer types were analyzed. higher fractions of fragments with aberrantly positioned ends were observed in patients with cancer, driven by contribution of tumor dna into plasma. genome wide analysis of fragment ends using machine learning showed overall area under the receiver operative characteristic curve of 0.96 for detection of cancer. these findings remained robust with as few as 1 million fragments analyzed per sample, indicating that analysis of fragment ends is a cost-effective and accessible approach for cancer detection and monitoring.
