Analytical and Clinical Validation of a Target-Enhanced Whole Genome Sequencing-Based Comprehensive Genomic Profiling Test.

IF 1.8 4区医学 Q3 ONCOLOGY

Cancer Investigation Pub Date : 2024-05-01 Epub Date: 2024-05-21 DOI:10.1080/07357907.2024.2352438

Stephanie Ferguson, Shruthi Sriram, Jonathan Kyle Wallace, Jeonghoon Lee, Jung-Ah Kim, Yoonsuh Lee, Brian Baek-Lok Oh, Won Chul Lee, Sangmoon Lee, Erin Connolly-Strong

引用次数: 0

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.

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基于目标增强全基因组测序的综合基因组轮廓测试的分析和临床验证。

评估目标增强型全基因组测序（TE-WGS）测定在肿瘤基因组综合分析中的测试性能。该检测方法的分析验证包括单核苷酸变异（SNV）、插入/缺失（indels）和结构变异（SV）的灵敏度和特异性，结果显示 SNV 的灵敏度为 99.8%，indels 的灵敏度为 99.2%。SNV的阳性预测值（PPV）为99.3%，indels为98.7%。临床验证以已建立的正交方法为基准，结果显示与参考方法高度一致。TE-WGS 通过全面分析关键生物标记物和全基因组（包括种系和体细胞结果），提供了超越靶向面板的见解。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Cancer Investigation 医学-肿瘤学

CiteScore

3.80

自引率

4.20%

发文量

审稿时长

8.5 months

期刊介绍： Cancer Investigation is one of the most highly regarded and recognized journals in the field of basic and clinical oncology. It is designed to give physicians a comprehensive resource on the current state of progress in the cancer field as well as a broad background of reliable information necessary for effective decision making. In addition to presenting original papers of fundamental significance, it also publishes reviews, essays, specialized presentations of controversies, considerations of new technologies and their applications to specific laboratory problems, discussions of public issues, miniseries on major topics, new and experimental drugs and therapies, and an innovative letters to the editor section. One of the unique features of the journal is its departmentalized editorial sections reporting on more than 30 subject categories covering the broad spectrum of specialized areas that together comprise the field of oncology. Edited by leading physicians and research scientists, these sections make Cancer Investigation the prime resource for clinicians seeking to make sense of the sometimes-overwhelming amount of information available throughout the field. In addition to its peer-reviewed clinical research, the journal also features translational studies that bridge the gap between the laboratory and the clinic.