Quantifying sequencing error and effective sequencing depth of liquid biopsy NGS with UMI error correction

Malene Støchkel Frank, Janina Fuß, Tim Alexander Steiert, Greta Streleckiene, Julie Gehl, Michael Forster

Publikation: Bidrag til tidsskriftArtikelForskningpeer review

Abstrakt

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.

OriginalsprogEngelsk
TidsskriftBioTechniques
DOI
StatusE-publikation før trykning - 29 jan. 2021

Fingeraftryk Udforsk hvilke forskningsemner 'Quantifying sequencing error and effective sequencing depth of liquid biopsy NGS with UMI error correction' indeholder.

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