Validation and implementation of a modular targeted capture assay for the detection of clinically significant molecular oncology alterations

验证和实施模块化靶向捕获检测方法,用于检测临床显著的分子肿瘤学改变

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作者:Ayako J Kuo, Vera A Paulson, Jennifer A Hempelmann, Mallory Beightol, Sheena Todhunter, Brice G Colbert, Stephen J Salipante, Eric Q Konnick, Colin C Pritchard, Christina M Lockwood

Conclusions

OPXv6 demonstrates improvements over prior UW-OncoPlex versions including reduced capture cost, improved sequencing quality, and decreased time to results. The modular capture probe design also provides a nimble laboratory response in addressing the expansions necessary to meet the needs of the continuously evolving field of molecular oncology.

Results

Accuracy was 99% for SNVs ≥5% allele frequency, 98% for indels, 97% for SVs, 99% for CNVs, 100% for MSI, and 100% for TMB (compared to previous OncoPlex versions). Library preparation turnaround time decreased by 40%, and sequencing quality improved with a 2.5-fold increase in average sequencing coverage and 4-fold increase in percent on-target. Conclusions: OPXv6 demonstrates improvements over prior UW-OncoPlex versions including reduced capture cost, improved sequencing quality, and decreased time to results. The modular capture probe design also provides a nimble laboratory response in addressing the expansions necessary to meet the needs of the continuously evolving field of molecular oncology.

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