Diagnostic Utility of Expression Imbalance in Idylla GeneFusion Assay for Non-Small Cell Lung Cancer [0.03%]
Idylla基因融合检测试剂盒在非小细胞肺癌中表达失衡的诊断价值分析
Michelle N Stram,Patricia L Caffes,Ying-Chun Lo
Michelle N Stram
The Idylla GeneFusion Assay (Biocartis) detects gene fusions with fusion-specific and expression imbalance methods. The purpose of this study was to evaluate the diagnostic utility of detecting fusions with expression imbalance alone in non...
A Laboratory-Adaptive Dynamic Quality Control Framework Reduces Targeted Capture Sequencing Failure in Solid Tumors by >90%: A Scalable Solution for Clinical Genomics [0.03%]
一种实验室自适应的动态质量控制框架通过将实体瘤靶向富集测序失败降低>90%，为临床基因组学提供了一种可扩展的解决方案
Jiang Wu,Jie Zhao,Xiaofeng Wang et al.
Jiang Wu et al.
High failure rates in targeted capture sequencing of solid tumors-especially from formalin-fixed, paraffin-embedded samples-limit the clinical application of next-generation sequencing. Current wet-laboratory quality control (QC) relies on ...
Optimization of the Extended Respiratory Panel Utilization via an Electronic Health Record Best Practice Alert [0.03%]
基于电子健康记录最佳实践警告的扩展呼吸道检测优化策略
Brandon Ellis,Kelvin Chen,Kathleen Anicich et al.
Brandon Ellis et al.
Droplet-Digital and Reverse Transcription Quantitative PCR Comparison for Circulating miR-371a-3p in Malignant Germ Cell Tumors [0.03%]
液滴数字逆转录定量PCR检测恶性生殖细胞肿瘤外泌体中miR-371a-3p的比较研究
Michelle M Nuño,Matthew J Murray,John T Lafin et al.
Michelle M Nuño et al.
Previous work has shown that circulating miR-371a-3p has higher sensitivity and specificity than current biomarkers for malignant germ cell tumors (MGCT). Here, the performance of two methods commonly used to measure miR-371a-3p levels was ...
Different States of Lung Allograft Injury Assessed by Plasma Donor-derived and Total Cell-free DNA [0.03%]
受者血浆供体来源及总胞外循环DNA评估肺移植不同状态损伤的临床意义
Alan Betensley,Katherine Vandervest,David J Ross et al.
Alan Betensley et al.
Lung allografts are susceptible to myriad injury types, including acute rejection (AR), infectious disease (ID), baseline lung allograft dysfunction (BLAD), and chronic lung allograft dysfunction (CLAD), that impact outcomes. Donor-derived ...
High-Yield DNA-Based Neurofibromatosis Type 1 Diagnostics Reveal Population-Specific Mutation Landscape in 1917 Koreans [0.03%]
基于DNA的高灵敏度I型神经纤维瘤病诊断揭示了1917名韩国患者的群体特异性突变图谱
Jaeryuk Kim,Gu-Hwan Kim,Soojin Hwang et al.
Jaeryuk Kim et al.
Neurofibromatosis type 1 (NF1) is a common autosomal dominant disorder with extensive allelic heterogeneity. Although RNA-based assays can increase sensitivity, their cost and complexity limit their routine use. A DNA-only tiered diagnostic...
CORRECTION [0.03%]
改正通知书
Long-read whole-transcriptome sequencing and selective gene panel profiling enable sensitive detection of fusion oncogenes in pediatric B-cell acute lymphoblastic leukemia [0.03%]
基于长读全长转录组测序和选择性基因谱系分析的儿童B细胞急性淋巴细胞白血病融合癌基因敏感检测
John Lin,Kofi B Opoku,Mark R Litzow et al.
John Lin et al.
Long-read whole-transcriptome sequencing (WTS) has the potential to precisely characterize fusion oncogenes that drive leukemia and other cancers. While there are a variety of general-purpose fusion detection algorithms that use modern long...
Long-Read Amplicon Sequencing for the Detection of TERT Promoter Variant Clonal Hematopoiesis in Patients with Telomere Biology Disorders [0.03%]
用于检测染色体生物学疾病患者TERT启动子变异克隆造血的长读扩增子测序技术
Rachel Kirchner,Miguel Pereira,Madilynn Peterson et al.
Rachel Kirchner et al.
Acquired TERT promoter (TERTp) variants are found in the blood of patients with telomere biology disorders (TBDs) and carry diagnostic and prognostic significance. Detection of these variants is challenging due to low variant allele frequen...
Health care impact of comprehensive genomic profiling of solid tumors in patient management using POWER (Precision Oncology at Western University) [0.03%]
基于POWER（西方大学精准肿瘤学）的全面基因组谱分析在实体瘤患者管理中的卫生经济学影响研究
Pratibha Bhai,Jacob P Turowec,Lee-Anne Pickard et al.
Pratibha Bhai et al.
Molecular profiling of solid tumors is increasingly essential in oncology practice, guiding diagnosis-prognosis and providing patients with access to molecularly matched therapies that can improve outcomes. In this study, we evaluated 554 p...