Quantifying sequencing error and effective sequencing depth of liquid biopsy NGS with UMI error correction
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- Quantifying sequencing error and effective sequencing depth of liquid biopsy NGS with UMI error correction
Final published version, 428 KB, PDF document
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.
Original language | English |
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Journal | BioTechniques |
Volume | 70 |
Issue number | 4 |
Pages (from-to) | 226-232 |
Number of pages | 7 |
ISSN | 0736-6205 |
DOIs | |
Publication status | Published - 2021 |
- cell-free DNA, low allele frequency, next-generation sequencing, unique molecular identifier (UMI)
Research areas
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