Analytical Validation and Clinical Sensitivity of the Belay Summit assay for the detection of DNA variants in cerebrospinal fluid of primary and metastatic CNS cancer [0.03%]
Belay Summit检测试剂盒的分析验证及其在原发性和继发性中枢神经系统肿瘤脑脊液DNA变异检测中的临床敏感度研究
Qian Nie,Kala F Schilter,Kyle M Hernandez et al.
Qian Nie et al.
In contrast to most solid tumors, cancers of the central nervous system (CNS) pose a unique challenge for effective detection and tracking via plasma due to the blood brain barrier (BBB). Informed diagnosis of primary and metastatic CNS tum...
Validation of the clinical performance and reproducibility of the Savanna HSV 1+2/VZV assay [0.03%]
Savanna HSV 1+2/VZV 检测的临床性能及重复性验证研究
Matthew L Faron,Jane M Caldwell,Lavannya Sabharwal et al.
Matthew L Faron et al.
Herpes simplex virus 1 (HSV-1), 2 (HSV-2) and varicella zoster virus (VZV) infections cause nondescript cutaneous and mucocutaneous lesions requiring rapid, differential identification to ensure appropriate diagnosis and patient counseling....
Gregory R Bean,Chieh-Yu Lin,Melissa Krystel-Whittemore et al.
Gregory R Bean et al.
Fragile X Syndrome Carrier Screening Using a Nanopore Sequencing Assay [0.03%]
基于纳米孔测序的脆性X综合征携带者筛查研究
Zhongmin Xia,Qiuxiao Deng,Ping Hu et al.
Zhongmin Xia et al.
Fragile X syndrome (FXS) is the leading cause of monogenic autism spectrum disorder and inherited intellectual disabilities. Although the value of population-based FXS carrier screening has been acknowledged, appropriate screening methods a...
Rapid screening and monitoring of UBA1 mutations in VEXAS syndrome [0.03%]
VEXAS综合征中UBA1突变的快速筛查与监测方法
Iván Martín Castillo,Elvira Mora,Rafael Hernani et al.
Iván Martín Castillo et al.
VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) is a severe adult-onset autoinflammatory disease associated with hematologic conditions such as myelodysplastic syndrome. VEXAS is mostly due to an acquired mutation affecting...
High-throughput multiplex detection of antibiotic resistant genes and virulence factors in Escherichia coli using digital Multiplex Ligation Assay [0.03%]
基于数字多重连接技术的大肠杆菌耐药基因和毒力因子高通量检测方法
Sheena Conforti,Pablo Rossi Orts,Manu Tamminen et al.
Sheena Conforti et al.
Escherichia coli causes over 400'000 annual deaths in children under five worldwide, with morbidity and mortality exacerbated by antimicrobial-resistant strains. A high-throughput multiplexing assay called digital Multiplex Ligation Assay (...
Robust assessment of HRD genomic instability by OncoScan microarrays [0.03%]
OncoScan微阵列 robust检测HRD基因组不稳定性的方法
Ariadna Lara Gutierrez,Iris Halbwedl,Stefan Sauer et al.
Ariadna Lara Gutierrez et al.
Genomic instability scars are markers for detecting homologous recombination deficiency status in ovarian cancer patients and predicting the response to PARP inhibitor treatment. Currently, only a few reliable and validated assays are avail...
Development of a Clinically Applicable High-Resolution Assay for Sperm Mosaicism [0.03%]
精子嵌合体临床适用的高分辨率检测方法的发展
Shan Wei,Miriam Temmeh Lattin,Stephanie Morgan et al.
Shan Wei et al.
Sperm mosaicism, the presence of a pathogenic variant in a subset of sperm, is an important cause of heritable genetic disease. However, clinical testing for sperm mosaicism outside research has been limited by the lack of Clinical Laborato...
A Comprehensive Guide to Achieving New York State Clinical Laboratory Evaluation Program Approval for Next-Generation Sequencing Assays [0.03%]
下一代测序检测获得纽约州临床实验室评估方案批准的全面指南
Phillip M Galbo Jr,Robert F Klees,Blake Burgher et al.
Phillip M Galbo Jr et al.
The FDA's recent move to regulate laboratory-developed tests (LDTs) as in vitro diagnostics (IVDs) has raised significant interest and concerns regarding its implementation. The New York State (NYS) Department of Health's Clinical Laborator...
A dual-mode targeted Nanopore sequencing assay for comprehensive SMN1 and SMN2 variant analysis [0.03%]
全面分析SMN1和SMN2变异的双模式靶向纳米孔测序检测方法
Bradley Hall,Sawsan Alyafei,Sathishkumar Ramaswamy et al.
Bradley Hall et al.
Spinal muscular atrophy (SMA) is one of the most common recessive disorders, and several life-saving treatment options are available. It is essential to establish universal SMA screening and diagnostic programs using scalable, cost-effectiv...