Article

Analytic and clinical validation of a pan-cancer NGS liquid biopsy test for the detection of copy number amplifications, fusions and exon skipping variants.

2022-01-26

Abstract excerpt

Liquid biopsies are an integral part of the diagnosis of cancer. Here, we have extended previous validation studies of a new targeted NGS panel to include the detection of copy number amplifications (CNAs), fusions, and exon skipping variants. Detection of these gene classes included specimens from clinical and healthy donors and cell lines (fusions: ROS1, EML4-ALK, NTRK1), (exon skipping: MET exon 14), and (CNAs:...

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Literature Corpus work: 67685eb7-f954-58b0-bba3-ec1ea51a6669
DOI: 10.20944/preprints202201.0390.v1

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