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

Genes - 30 Mar 2021

Hermann Bernd Timo, Pfeil Sebastian, Groenke Nicole, Schaible Samuel, Kunze Robert, Ris Frédéric, Hagen Monika Elisabeth, Bhakdi Johannes

Abstract excerpt

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...

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PMID: 33808158
DOI: 10.3390/genes12040507
PMCID: PMC8065719

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