학술논문
Analytical and Clinical Validation of a Target-Enhanced Whole Genome Sequencing-Based Comprehensive Genomic Profiling Test.
Document Type
Article
Author
Source
Subject
*TUMOR treatment
*PREDICTIVE tests
*GENOMICS
*RESEARCH funding
*CANCER patients
*DESCRIPTIVE statistics
*GENETIC polymorphisms
*INDIVIDUALIZED medicine
*SEQUENCE analysis
*GENETIC profile
*SENSITIVITY & specificity (Statistics)
*BIOMARKERS
RESEARCH evaluation
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Language
ISSN
0735-7907
Abstract
Evaluation of the test performance of the Target 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 positive predictive value (PPV) was 99.3% SNVs and 98.7% indels. Clinical validation was benchmarked against established orthogonal methods and demonstrated high concordance with reference methods. TE-WGS provides insights beyond targeted panels by comprehensive analysis of key biomarkers and the entire genome encompassing both germline and somatic findings. [ABSTRACT FROM AUTHOR]