Ontology highlight
ABSTRACT: Background
Despite the wide variety of Next Generation Sequencing (NGS)-based methods, it remains challenging to detect mutations present at very low frequencies. This problem is particularly relevant in oncology, where the limiting amount of input material, and its low quality, often limit the performance of the assays. Unique Molecular Identifiers (UMIs) are a molecular barcoding system often coupled with computational methods of noise suppression to improve the reliability of detection of rare variants. Although widely adopted, UMI inclusion imposes additional technical complexity and sequencing cost. Currently, there are no guidelines on UMI usage nor a comprehensive evaluation of their advantage across different applications.Methods
We used DNA sequencing data generate
SUBMITTER: Bieler J
PROVIDER: S-EPMC10163729 | biostudies-literature | 2023 May
REPOSITORIES: biostudies-literature