Non-Invasive Detection of Bladder Cancer via Urinary DNA Mutation and Methylation Profiling Using Modified qPCR [0.03%]
基于改良的qPCR技术检测尿液DNA突变和甲基化以实现膀胱癌非侵入性诊断
Di Jin,Hailong Wang,Chen Jiang et al.
Di Jin et al.
Cystoscopy is the gold standard for bladder cancer diagnosis and surveillance but suffers from invasiveness and patient discomfort. Existing urine-based assays with single gene mutation or methylation biomarkers exhibit insufficient diagnos...
Molecular basis of sarcomeric variants and the modifying role of non-sarcomeric genes in Sudden unexplained nocturnal death syndrome (SUNDS) [0.03%]
突发性不明原因夜间死亡综合征（SUNDS）的肌丝蛋白相关基因变异的分子基础及其致病机制中的非结构性修饰作用
Aummarin Chaloemthanetphong,Bodee Nutho,Rachtipan Pitiwararom et al.
Aummarin Chaloemthanetphong et al.
Sudden unexplained nocturnal death syndrome (SUNDS), a subtype of sudden unexplained death, predominantly affects young, otherwise healthy individuals, with a higher prevalence in males and a geographic concentration in Southeast Asia, part...
Simultaneous detection of SMN1, SMN2, NAIP, H4F5, GTF2H2 copy number and SMN1 loss-of-function variants for SMA by MALDI-TOF mass spectrometry [0.03%]
基于基质辅助激光解析电离飞行时间质量测定技术的脊髓性肌萎缩症基因检测研究
Yunli Lai,Yajun Cheng,Xuexi Yang et al.
Yunli Lai et al.
Spinal muscular atrophy (SMA) is a common fatal genetic disorder with high carrier rate. For prevention program and treatment plan of this disease, a comprehensive assay is practically needed to gain multi-genetic information, enabling effe...
The Critical Role of Preanalytical Factors in Validating Cytology Specimens for Hybrid-Capture Next-Generation Sequencing: From Smear to Sequence [0.03%]
细胞学标本用于杂交捕获型下一代测序检验的验证中预分析因素发挥的关键作用：从涂片到序列化
Holly Atwell,Sinchita Roy-Chowdhuri,Rana Seyedjafari et al.
Holly Atwell et al.
Cytologic specimens, often the only available sample, are increasingly relied upon for comprehensive genomic profiling in patients with advanced malignancies, necessitating detailed characterization of next-generation sequencing (NGS) assay...
Validation of a Semi-Quantitative Real-Time PCR Assay for Malaria Diagnosis and Treatment Monitoring [0.03%]
用于疟疾诊断和疗效评价的半定量实时聚合酶链反应检测方法的验证研究
Amorce Lima,Shekina Gonzalez-Ferrer,Stephanie Kwon et al.
Amorce Lima et al.
Microscopic examination of blood smears is the current gold standard for laboratory confirmation of malaria. However, it is time consuming and lacks sensitivity while requiring highly skilled laboratory professionals. We validated a multipl...
Next-generation sequencing reporting practices among the Genomics Organization for Academic Laboratories (GOAL) institutions: Current state and opportunities for harmonization [0.03%]
下一代测序报告实践在学术实验室基因组组织(GOAL)机构中的应用现状及和谐发展机会评估
Celeste C Eno,Ramakrishna Sompallae,Daniel Jones et al.
Celeste C Eno et al.
Tumor next-generation sequencing (NGS) is widely used to refine diagnosis and identify therapy targets. However, reporting criteria, schemas, and formats vary greatly which can affect uniformity of clinical cancer care. With the aim of prom...
Performance Evaluation of a Custom Myeloid Assay on the Genexus Integrated Sequencer from a Wide Spectrum of Clinical Variants [0.03%]
Genexus整合式定序器的定制髓样检测性能评估：多种临床变异类型广泛参与
Michelle A Dina,Joseph H Blommel,Jagadheshwar Balan et al.
Michelle A Dina et al.
A custom Genexus myeloid assay (CMA) underwent a technical evaluation for detection of variants from both DNA and RNA in a single assay format. The custom assay was initially verified with commercial DNA and RNA controls containing known my...
Epigenetic CD4+ T-Cell Quantification from Dried Blood Spots Using a qPCR-Based Assay [0.03%]
基于qPCR的检测方法从干血斑中量化表观遗传CD4+T细胞
Riffat Munir,Tracy Sungu,Denise Lawrie et al.
Riffat Munir et al.
Despite the clinical importance of CD4 testing for identifying advanced HIV disease, access to conventional flow cytometry remains limited in many settings. Epigenetic quantitative PCR (qPCR)-based immune cell quantification represents a mo...
Segmental Copy Number Variant Detection Using an Amplicon-based NGS Panel for Integrated Glioma Classification [0.03%]
基于靶向测序的胶质瘤整合分类拷贝数变异检测
Kajeetha Sarvananthan,Stephanie Santos,Brent Saylor et al.
Kajeetha Sarvananthan et al.
Next-generation sequencing (NGS) is a first-tier test in molecular oncology, capable of detecting sequence variants (SVs) and copy number variants (CNVs). Although most amplicon-based gene panels are not designed to detect segmental chromos...
Clinical validation of the Roche cobas and cobas 4800 HPV tests on self-collected vaginal dry swabs vs practitioner-collected cervical specimens using the VALHUDES Protocol [0.03%]
VALHUDES方案：患者自采阴道干燥棉签标本和临床医生采宫颈标本进行罗氏cobas和cobas 4800人乳头瘤病毒检测的临床验证
David Hawkes,Desuba Gurung,Eunice Pineda et al.
David Hawkes et al.
The first national HPV-based cervical screening programs began in 2017. Since then, a growing list of countries have moved, or want to move, to HPV-based screening. One of the benefits of HPV-based screening is that a sample does not need t...