DEEPGENTM-A Novel Variant Calling Assay for Low Frequency Variants.

ABSTRACT: Detection of genetic variants in clinically relevant genomic hot-spot regions has become a promising application of next-generation sequencing technology in precision oncology. Effective personalized diagnostics requires the detection of variants with often very low frequencies. This can be achieved by targeted, short-read sequencing that provides high sequencing depths. However, rare genetic variants can contain crucial information for early cancer detection and subsequent treatment success, an inevitable level of background noise usually limits the accuracy of low frequency variant calling assays. To address this challenge, we developed DEEPGENTM, a variant calling assay intended for the detection of low frequency variants within liquid biopsy samples. We processed reference samples with

SUBMITTER: Hermann BT 

PROVIDER: S-EPMC8065719 | biostudies-literature | 2021 Mar

REPOSITORIES: biostudies-literature