Quantifying sequencing error and effective sequencing depth of liquid biopsy NGS with UMI error correction
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Dokumenter
- Quantifying sequencing error and effective sequencing depth of liquid biopsy NGS with UMI error correction
Forlagets udgivne version, 428 KB, PDF-dokument
Liquid biopsies are a minimally invasive method to diagnose and longitudinally monitor tumor mutations in patients when tissue biopsies are difficult (e.g., in lung cancer). The percentage of cell-free tumor DNA in blood plasma ranges from more than 65% to 0.1% or lower. To reliably diagnose tumor mutations at 0.1%, there are two options: unrealistically large volumes of patient blood or library preparation and sequencing depth optimized to low-input DNA. Here, we assess two library preparation methods and analysis workflows to determine feasibility and reliability based on standards with known allelic frequency (0 and 0.13% in PIK3CA). However, the implementation for patients is still costly and requires elaborate setups.
Originalsprog | Engelsk |
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Tidsskrift | BioTechniques |
Vol/bind | 70 |
Udgave nummer | 4 |
Sider (fra-til) | 226-232 |
Antal sider | 7 |
ISSN | 0736-6205 |
DOI | |
Status | Udgivet - 2021 |
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