Validation of a Modular Gene Expression Assay for Risk Stratification and Subtyping Lymphomas [0.03%]
用于淋巴瘤风险评估和亚型分类的模块化基因表达测定的验证
Peter J B Sabatini,Josh Bridgers,Shujun Huang et al.
Peter J B Sabatini et al.
Gene expression signatures are important for classifying lymphoid malignancies, although routine diagnostic workflow predominantly use immunohistochemical staining and fluorescence in situ hybridization. These traditional methods are labor-...
Enhanced detection of splice altering variants in hematologic malignancies using targeted RNA-seq data [0.03%]
利用靶向RNA测序数据增强血液系统恶性肿瘤剪接改变检测能力
Muneeza Maqsood,John Toubia,Carol Wadham et al.
Muneeza Maqsood et al.
RNA-based targeted sequencing aids the detection of several types of variants in hematologic and other malignancies, including splice-altering variants. However, accurately identifying clinically relevant mis-splicing events remains challen...
Comparative performance of a targeted next-generation sequencing assay against multiplexed digital PCR assays in detecting ERBB2, ESR1, and PIK3CA mutations in plasma circulating cell-free DNA from liquid biopsies [0.03%]
靶向下一代测序在检测液态活检中循环游离DNA的ERBB2、ESR1和PIK3CA突变方面的性能与多重数字PCR比较
Julien Corné,Florence Godey,Angelina Legros et al.
Julien Corné et al.
Analyzing somatic mutations in liquid biopsies poses a real challenge in treating patients with breast cancer. Because of the high sensitivity required to detect circulating tumor DNA, which may be present at very low levels, digital PCR an...
Clinical utility of multitissue genomic arrays in diagnosing pigmentary mosaicism associated with neurodevelopmental delay [0.03%]
多组织基因组芯片在诊断与神经发育迟缓相关的色素镶嵌症方面的临床应用价值
Yanca Gasparini Oliveira,Marilia Moreira Montenegro,Vanessa Tavares Almeida et al.
Yanca Gasparini Oliveira et al.
Genomic mosaicism is underdiagnosed owing to its variable tissue distribution and the limitations of single-tissue testing. Cytogenomic techniques applied across multiple tissues can uncover clinically actionable variants and clarify genoty...
Analysis of the Fragmentation and Integrity of Urine Cell-Free DNA as Diagnostic and Staging Biomarker for Bladder Cancer [0.03%]
尿液无细胞DNA的片段化和完整性作为诊断和分期膀胱癌生物标志物的研究分析
Raquel Herranz,Julia Oto,Emma Plana et al.
Raquel Herranz et al.
Bladder cancer (BC) is a lethal urological malignancy, with current diagnostic and follow-up methods being invasive and costly. Cell-free DNA (cfDNA) in liquid biopsies has shown promise in cancer diagnostics, but its fragmentation and inte...
Evaluation of long-read genome sequencing for genomic profiling of myeloid cancers [0.03%]
评估长读长基因组测序在髓系癌症基因组分析中的应用
Haley J Abel,Mohamed Mahgoub,Nidhi Davarapalli et al.
Haley J Abel et al.
Whole-genome sequencing (WGS) is a comprehensive approach for the genomic evaluation of acute myeloid leukemia (AML) and myelodysplastic syndromes (MDS). We recently described a streamlined tumor-only WGS assay (ChromoSeq) that uses Illumin...
Developing Consensus for a More Provider-Friendly Next Generation Sequencing Molecular Biomarker Report: A Joint Consensus Recommendation of the Association for Molecular Pathology and College of American Pathologists [0.03%]
美国分子病理学协会和美国病理学家学院关于下一代测序分子生物标志物报告的联合共识推荐：达成更多利于实验者的下一代测序分子生物标志物报告的共识意见
Jane Gibson,Hanadi El Achi,Dana Altenburger et al.
Jane Gibson et al.
Despite the increasing availability of next-generation sequencing (NGS) gene panel analysis for cancers, published reports suggest under-utilization of testing, citing the shortage of credentialed professionals available to assist with the ...
Analytical Validation of a Pan-Cancer NGS Assay for In-House Liquid Biopsy Testing: An International Multicenter Study [0.03%]
一种用于内部液体活检检测的泛癌症NGS测定的分析验证：一项国际多中心研究
Gaëlle Lescuyer,Alexandre Harlé,Hari Shankar Kumar et al.
Gaëlle Lescuyer et al.
Liquid biopsy (LBx) assays are transforming precision oncology by providing a less invasive alternative to tissue biopsies. These assays screen for tumour genetic alterations in circulating free DNA (cfDNA), which typically requires detecti...
Validation and Clinical Utility of a Pan-Cancer Circulating Tumor DNA Assay as a First-approach Test [0.03%]
一种泛癌症循环肿瘤DNA检测的验证及其临床应用价值作为首选检测方法
Nisha Kanwar,Michael B Campion,Amber R Schneider et al.
Nisha Kanwar et al.
The feasibility of circulating tumor DNA (ctDNA) assays as a first-approach test in a pan-cancer setting is not well-established. Furthermore, low ctDNA levels limit assay sensitivity which challenges adaptation to clinical genomic profilin...
Analytical Validation of Blood-Derived Tumor Mutation Burden (bTMB) Assays: A Joint Consensus Recommendation of the BLOODPAC bTMB Analytical Validation Working Group [0.03%]
血液衍生肿瘤突变负荷（bTMB）检测的分析验证：BLOODPAC工作组联合共识建议
Jonathan Baden,Mark Sausen,Andrew T Anfora et al.
Jonathan Baden et al.
Immunotherapies have changed the treatment paradigm for patients with advanced and metastatic solid tumors, with tumor mutation burden representing one approach to identify patients who may experience clinical benefit. Circulating tumor DNA...