Two-dimensional polymerase chain reaction for identifying the HLA alleles associated with adverse drug reactions [0.03%]
用于识别与药物不良反应相关的HLA等位基因的二维聚合酶链式反应技术
Xueting Zhu,Shuang Yao,Jun Zhang et al.
Xueting Zhu et al.
This study aims to establish a two-dimensional PCR (2D-PCR) methodology capable of simultaneously identifying HLA-A*31:01, HLA-B*15:02, HLA-B*57:01, and HLA-B*58:01 alleles to prevent adverse drug reactions (ADRs) and guide safe clinical me...
From expert knowledge to validation resources - a case for using in silico approaches to close the gap in available reference materials for common germline genetic tests [0.03%]
从专家知识到验证资源——利用计算机模拟方法弥补常用遗传基因检测参考材料不足的必要性
Somak Roy,Martine W Tremblay,Edward Lockhart et al.
Somak Roy et al.
Clinical implementation of whole genome and whole exome sequencing by next generation sequencing (NGS) allows for comprehensive detection of genomic alterations. However, with the growing number of clinically relevant genes and variants the...
High-Specificity Detection of Ultraviolet Mutational Signatures in Circulating Tumor DNA for Diagnostic Classification of Cutaneous and Unknown Primary Tumors using FoundationOne Liquid CDx [0.03%]
利用FoundationOne液体CDx诊断分类皮肤和未知原发肿瘤的紫外线突变特征的高特异性检测循环肿瘤DNA中的紫外变异信号
Douglas A Mata,Angela A Kou,Andreas M Heilmann et al.
Douglas A Mata et al.
This study evaluated an ultraviolet (UV) mutational signature classifier applied to circulating tumor DNA (ctDNA) in cell-free DNA (cfDNA) liquid biopsies, using the FoundationOne Liquid CDx (F1LCDx) platform. Among 73,790 samples, 12.9% (9...
Evaluation of Genomic Proximity Mapping (GPM) for Detecting Genomic and Chromosomal Structural Variants in Constitutional Disorders [0.03%]
评估基因组邻近性映射(GPM)在检测常染色体疾病结构变异方面的性能
He Fang,Stephen M Eacker,Yu Wu et al.
He Fang et al.
Structural variants are critical to genetic diversity and disease, yet their detection remains challenging with conventional cytogenetic techniques, including karyotyping, fluorescence in situ hybridization, and chromosome microarray analys...
A novel ddPCR assay for BRCA1 and RAD51C methylation: Advancing HRD Detection in Ovarian Cancer [0.03%]
一种新颖的ddPCR检测BRCA1和RAD51C甲基化的方法：卵巢癌中HRD检测的新进展
Cassandra Michel,Alizée Simon,Andréa Witz et al.
Cassandra Michel et al.
Homologous recombination deficiency (HRD) affects 50% of ovarian cancers (OC) and influences PARP inhibitors efficacy. While one-third of HRD tumours harbour a deleterious BRCA1/2 mutation, these mutations are not the sole cause of HRD. Pro...
Integrating Formalin-Fixed, Paraffin-Embedded-Derived Whole-Genome Sequencing into Routine Molecular Pathology: Validation and First Experiences in Metastatic Melanoma [0.03%]
石蜡包埋标本全基因组测序整合进入常规分子病理的验证及其在转移性黑色素瘤中的初步应用经验
Cassandra Litchfield,Ronny Nienhold,Andreas Wicki et al.
Cassandra Litchfield et al.
Formalin-fixed, paraffin-embedded (FFPE) tumor tissue is the standard in pathology due to logistical and quality constraints of fresh-frozen samples. Although whole-genome sequencing (WGS) offers diagnostic promise, its validity and utility...
Informatics Powering Data to Shape the Future of Molecular Pathology [0.03%]
informatics驱动数据塑造分子病理学的未来
Andrea Sboner,Jamal Benhamida,Julie W Hirschhorn et al.
Andrea Sboner et al.
Additional diagnostic yield through the analysis of short tandem repeats based on exome sequencing data [0.03%]
基于外显子组测序数据的短串联重复序列分析可额外提高诊断率
Shiyi Xu,Xiaomei Luo,Bing Xiao et al.
Shiyi Xu et al.
Short tandem repeats (STRs) are associated with 70 genetic diseases. Due to the short read length of exome sequencing (ES), STR analysis is not routinely analyzed in clinical ES. So far, there has been limited systematic evaluation using la...
Bridging the diagnostic gap in hereditary cancers with simple, cost-effective, high-throughput RNA splicing analysis [0.03%]
利用简单、经济高效的高通量RNA剪接分析法弥合遗传性癌症诊断中的缺口
Julie Amiot,Corentin Levacher,Louise May Thibaut et al.
Julie Amiot et al.
Diagnostic analysis of messenger RNA is essential as altered splicing is a frequent cause of genetic diseases. High throughput splicing studies remain difficult to implement in routine diagnostics. This is why we developed SEALigHTS (splice...
Micro-costing Study of Genomic Profiling for Precision Cancer Medicine: Application from the National Infrastructure for Precision Diagnostics in Norway [0.03%]
挪威精准诊断国家基础设施的基因组检测成本分析：精准癌症医学的应用
Pia S Henkel,Eline Aas,Hege G Russnes et al.
Pia S Henkel et al.
Detailed cost analyses of genomic profiling for precision cancer medicine can inform strategic planning and cost-effectiveness analysis. A flexible costing framework was developed in this study to conduct micro-costing of genomic profiling ...