Analytical and clinical validation of a targeted-enhanced whole genome sequencing-based comprehensive genomic profiling test.
Ferguson, S.; Sriram, S.; Lee, J.; Wallace, J. K.; Kim, J.-A.; Lee, Y.; Oh, B. B.-L.; Lee, W. C.; Lee, S.; Connolly-Strong, E. C.
Show abstract
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% for SNVs and 98.7% for indels. Clinical validation was benchmarked against established orthogonal methods and demonstrated high concordance with reference methods in variant characterization. The TE-WGS assay enhances personalized cancer treatment by offering detailed genomic insights and the adaptability to include emerging biomarkers.
Matching journals
The top 1 journal accounts for 50% of the predicted probability mass.
Similar papers in this journal
- Validation of a Pan-Cancer NGS Liquid Biopsy Test for Routine Hospital Use: An International Multicenter Clinical Performance Evaluation 96%
- Clinical validation of Whole Genome Sequencing for routine cancer diagnostics 95%
- Bridge Capture Permits Cost-Efficient, Rapid and Sensitive Molecular Precision Diagnostics 95%
Similar papers in this journal
- Utilisation of semiconductor sequencing for the detection of predictive biomarkers in glioblastoma 94%
- Analytical validation and performance characteristics of a 48-gene next-generation sequencing panel for detecting potentially actionable genomic alterations in myeloid neoplasms 93%
- Pixelwise H-score: a novel digital image analysis based-metric to quantify membrane biomarker expression from immunohistochemistry images 92%
Similar papers in this journal
- Profiling diverse sequence tandem repeats in colorectal cancer reveals co-occurrence of microsatellite and chromosomal instability involving Chromosome 8 93%
- Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework 91%
- OncoGEMINI: Software for Investigating Tumor Variants From Multiple Biopsies With Integrated Cancer Annotations 90%
Similar papers in this journal
- Germline testing data validate inferences of mutational status for variants detected from tumor-only sequencing 95%
- Low abundance of circulating tumor DNA in localized prostate cancer 92%
- Normalized LST is an efficient biomarker for homologous recombination deficiency and Olaparib response in ovarian carcinoma 91%
Similar papers in this journal
- Accurate Screening for Early-Stage Breast Cancer by Detection and Profiling of Circulating Tumor Cells 94%
- Development of a Single Molecule Counting Assay to Differentiate Chromophobe Renal Cancer and Oncocytoma in Clinics 93%
- DNA mismatch repair gene variant classification: evaluating the utility of somatic mutations and mismatch repair deficient colonic crypts and endometrial glands 93%
"Similar papers" are the closest papers from that journal in the model's embedding space. They show what the match is built on, but the ranking comes mostly from a classifier over the whole training set, not from these examples alone.