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Analytical and clinical validation of a targeted-enhanced whole genome sequencing-based comprehensive genomic profiling test

2023-12-18

Abstract excerpt

Evaluation of the test performance of the targeted enhanced whole-genome sequencing (TE-WGS) assay for comprehensive oncology genomic profiling. The analytical validation of the assay included sensitivity and specificity for single nucleotide variants (SNVs), insertions/deletions (indels), and structural variants (SVs), revealing a revealed a sensitivity of 99.8% for SNVs and 99.2% for indels. The PPV was 99.3% fo...

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Literature Corpus work
c4cfb8d5-9a1b-5146-8d50-954744275452
DOI
10.1101/2023.12.18.23300049
Open publication

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Analytical and clinical validation of a targeted-enhanced whole genome sequencing-based comprehensive genomic profiling testDOI 10.1101/2023.12.18.23300049
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