Pitfalls in detecting MET exon 14 skipping variants by DNA- and RNA- based next generation sequencing technologies in a large real-world cohort and results of the first multinational EQA schemes [0.03%]
基于DNA和RNA的下一代测序技术在大型真实世界队列中检测MET外显子14跳跃突变的陷阱以及首次多国质控计划的结果
Carina Heydt,Michaela Angelika Ihle,Katharina Ilm et al.
Carina Heydt et al.
MET exon 14 skipping mutations in non-small cell lung cancer (NSCLC) are important biomarkers for targeted therapy, making accurate detection essential. We analyzed 379 NSCLCs with mutations in MET exon 14 and adjacent splice sites using DN...
Genetic Landscape of Acute Leukemia of Ambiguous Lineage: A Single Cancer Center Experience [0.03%]
谱系不明急性白血病的遗传特征克隆演化特点及基因功能调控网络研究
Fei Fei,Milhan Telatar,Lisa Chang et al.
Fei Fei et al.
Acute leukemias of ambiguous lineage (ALALs) are rare acute leukemias with poor prognosis, encompassing acute undifferentiated leukemia (AUL) and mixed-phenotype acute leukemia (MPAL). The 5th edition of the World Health Organization Classi...
Analytical Validation of Short-Read Genome Sequencing for Diagnostic Panel and Exome Testing [0.03%]
短读长基因组测序在诊断性和外显子检测中的分析验证
Yao Yang,Nathan A Hammond,Pun Wai Tong et al.
Yao Yang et al.
Genome sequencing is a commonly used platform for genetic disease research; however, most clinical laboratories use enrichment-based targeted sequencing for diagnostic panels and exome testing. To facilitate the implementation of clinical g...
Rapid On-Site Next-Generation Sequencing: An Alternative to Single-Gene and Send-Out Testing in Non-Small Cell Lung Cancer and Colorectal Cancer in a Community Pathology Laboratory Setting [0.03%]
快速现场下一代测序：社区病理实验室非小细胞肺癌和结直肠癌单基因及送检测试的替代方法
Ossama Tawfik,Russell Smith,Jon Thomason et al.
Ossama Tawfik et al.
Non-small cell lung cancer (NSCLC) and colorectal cancer (CRC) are malignancies with numerous actionable mutations. Accurate mutation identification is essential for targeted therapies, highlighting the need for next-generation sequencing (...
Multicenter Clinical Comparison of the 10-Minute AMDI Fast PCR Mini Respiratory Panel and the Cepheid Xpert Xpress CoV-2/Flu/RSV plus [0.03%]
AMDI快速PCR迷你呼吸道病原体检测 panel与Cepheid Xpert Xpress CoV-2/Flu/RSV plus检测 panel的多中心临床比较研究
Aravind Srinivasan,Regina Martin,Gregory Allen Jr et al.
Aravind Srinivasan et al.
RT-PCR is the gold standard to determine the etiology of respiratory tract viral infections caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), influenza A, influenza B, and respiratory syncytial virus (RSV). Multiplex t...
Optimization of Pathologists' Roles in Molecular Biomarker Testing in Metastatic Breast Cancer: A Consensus Statement [0.03%]
转移性乳腺癌分子生物标志物检测中病理医师角色优化的共识声明
Ravindra Kolhe,Cansu Karakas,Eric Vail et al.
Ravindra Kolhe et al.
Mikayla Quinton,Omar Abdullah,Amary Fall et al.
Mikayla Quinton et al.
Quantitative real-time PCR assays often lack harmonization, leading to variability in viral load reporting. Differences in calibration materials, assay design, extraction methods, and gene targets further complicate standardization. This st...
Utility of a Multiplex Molecular Respiratory Pathogen Panel on Clinical Management of Children in the Pediatric Emergency Department [0.03%]
小儿多重分子呼吸道病原体检测 panel在急诊科的应用价值研究
Samuel M Goodfellow,Jennifer Dien Bard,Vivian Lee et al.
Samuel M Goodfellow et al.
Acute respiratory infections in children contribute to a significant volume of pediatric emergency department (PED) visits annually. Rapid molecular respiratory pathogen panels (RPPs) have increasingly been integrated into diagnostic workup...
Validation of MyHPVscore: A High-Performance Human Papillomavirus Circulating Tumor DNA Laboratory-Developed Test [0.03%]
MyHPVscore高绩效人乳头瘤病毒循环肿瘤DNA实验室检验的验证研究
Jordan Currie,Heather Walline,Colleen G Hochfelder et al.
Jordan Currie et al.
As rates of human papillomavirus-positive (HPV+) oropharynx cancer increase, there is increasing need for accurate biomarkers for diagnosis, treatment, and surveillance. The analytical performance of MyHPVscore, a droplet digital PCR labora...
Comprehensive Pathologic and Genetic Investigation of Four Young Adults with a Short QT Interval and Sudden Unexpected Death [0.03%]
短QT间期所致的四种青年猝死的病理和基因综合研究
Yukiko Hata,Yoshiaki Yamaguchi,Keiichi Hirono et al.
Yukiko Hata et al.
Although structural heart abnormalities are not typically associated with short QT syndrome (SQTS)-related sudden unexpected death, few autopsy studies have examined the underlying pathology and genetic factors of SQTS. Therefore, comprehen...