Modular RNA-seq Analytics for Exploratory Biomarker Discovery using Public Data [0.03%]
基于公共数据的模块化RNA序列分析探索性生物标志物发现方法
Cheryl L Sesler,Lukasz S Wylezinski,Guzel I Shaginurova et al.
Cheryl L Sesler et al.
Publicly available RNA sequencing (RNA-seq) data provide a cost-effective springboard for biomarker discovery. However, heterogeneity across studies often complicates analysis. This study presents a modular analytics pipeline that combines ...
Laboratory Considerations for Reproductive Genetic Carrier Screening: Experiences from Mackenzie's Mission [0.03%]
麦肯齐使命生殖遗传携带者筛查的实验室考量经验
Corrina C Cliffe,Richard J N Allcock,Nigel G Laing et al.
Corrina C Cliffe et al.
The Australian Reproductive Genetic Carrier Screening Project, "Mackenzie's Mission", performed couple-based screening for 9107 reproductive couples for over 1280 genes associated with severe autosomal and X-linked recessive disorders. It i...
Analytical Validation of a Plasma-Based Rapid Liquid Biopsy Assay Using Next-Generation Sequencing [0.03%]
基于血浆的液体活检检测NGS审评认证分析研究论文获国际顶级期刊《临床化学》发表
Sinchita Roy-Chowdhuri,Ana Galan-Cobo,Nitin Agarwal et al.
Sinchita Roy-Chowdhuri et al.
Cell-free total nucleic acid (cfTNA)-based liquid biopsy (LBx) offers a minimally invasive alternative to tissue-based next generation sequencing (NGS). Most NGS-based LBx assays require several days for results. This study validated a rapi...
Predicting recurrence of Stage IA lung adenocarcinoma using ctDNA whole genome mutational signatures [0.03%]
基于ctDNA全基因组突变特征预测IA期肺腺癌复发
Matija Snuderl,James Smadbeck,Reid Wilkins et al.
Matija Snuderl et al.
Lung adenocarcinoma (LUAD) remains a leading cause of cancer-related mortality. While for Stage IA LUAD surgery is often curative, recurrence rates remain significant. Liquid biopsy enables monitoring residual disease and predicts recurrenc...
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...