Optical Genome Mapping versus Whole-Genome Sequencing in the Clinical Diagnosis of Gynecological Mesenchymal Tumors [0.03%]
妇科间叶肿瘤的临床诊断中光学基因组映射与全基因组测序的比较
Karin Wallander,Yingbo Lin,Vadym Ivanchuk et al.
Karin Wallander et al.
Optical genome mapping (OGM) enables high-resolution detection of structural variants (SVs) and copy number aberrations (CNAs) using ultra-long DNA molecules and minimal bioinformatics processing. Its diagnostic utility in solid tumors rema...
Towards Comprehensive Detection of the SMN1/2 Genotypes: Potential of Long-Read Sequencing in Routine SMA Genetic Testing [0.03%]
全面检测SMN1/2基因型：长读测序在常规脊髓性肌萎缩症基因检测中的潜力
Aiko Iwata-Otsubo
Aiko Iwata-Otsubo
Enhanced Detection of EGFRvIII in Tumors: A Comparative Study of Split Read and Read Depth-Based DNA Sequencing Approaches [0.03%]
EGFRvIII在肿瘤中的增强检测：基于分裂读和读深度的DNA测序方法的比较研究
Nan Chen,Jingjing Feng,Dong Wan et al.
Nan Chen et al.
Epidermal Growth Factor Receptor variant III (EGFRvIII), a common oncogenic variant in glioblastoma (GBM) and other solid tumors, results from an in-frame deletion of exons 2-7 in the EGFR gene. Detection of EGFRvIII is crucial for understa...
Highly Sensitive Detection of Donor Chimerism by Next-Generation Sequencing [0.03%]
基于高通量测序的供者嵌合体高灵敏度检测方法
Eros Qama,Abedul Haque,Juan Du et al.
Eros Qama et al.
Donor chimerism analysis is used for monitoring engraftment status and risk of disease relapse following allogeneic stem cell transplantation. Recently developed assays using next generation sequencing (NGS) have demonstrated enhanced sensi...
Prediction of lung metastasis in breast cancer patients using machine learning classifiers [0.03%]
应用机器学习分类器预测乳腺癌患者的肺转移
Thanh Dat Nguyen,Quynh Mai Nguyen Thi,Tuong Van Nguyen et al.
Thanh Dat Nguyen et al.
Breast cancer is the most common cancer among women, and metastasis to the lung is associated with poor prognosis. Reliable biomarkers for predicting lung metastasis are urgently needed to improve early detection and clinical decision-makin...
Functional analysis of four splice site variants, including a novel variant, on antigen expression and ABO subgroup formation [0.03%]
四种剪接位点变异体（包括一个新的变异体）的的功能分析及其对特异性抗原表达和ABO亚型形成的影响
Huayue Yang,Dan Long,Hang Lei et al.
Huayue Yang et al.
Splice site variants within the ABO gene have the potential to impair ABO glycosyltransferase biosynthesis, leading to decreased expression of A or B antigens on the surface of red blood cells. This study characterized how four intron 6 spl...
Updates on the clinical epidemiology of HIV-1 group O strains in Cameroon and potential implications on diagnosis and treatment strategies [0.03%]
关于喀麦隆HIV-1组O株临床流行病学的最新研究及其对诊断和治疗策略的影响
Joseph Fokam,Collins Ambe Chenwi,Désiré Augustin Takou Komego et al.
Joseph Fokam et al.
Cameroon is an epicentre of diverse HIV-1 strains, with challenges in diagnosis and disease management. The objective herein was to update the prevalence of HIV-1 non-M and compare diagnostic-performance of the 2-test vs. 3-test algorithms....
A More Clinically Effective Long-read Sequencing-based Approach for Comprehensive Analysis of Spinal Muscular Atrophy [0.03%]
一种更具有临床有效性的长读序列分析方法用于全面分析脊髓性肌萎缩症
Shuyuan Li,Bailing Liu,Jingfan Zhang et al.
Shuyuan Li et al.
Conventional methods for spinal muscular atrophy (SMA) screening have been challenging in detecting SMN1/2 single-nucleotide variants (SNVs) and small insertions and deletions (indels), SMN1 2+0 silent carrier, and the copy number (CN) of S...
Enhanced comprehension of the pathogenicity of splicing variants: evidence from a range of in vitro and in vivo functional assays [0.03%]
来自一系列体内外功能测定的证据提高了对剪接变异体致病性的理解
Yan Xu,Bin Hu,Xu Han et al.
Yan Xu et al.
Despite the availability of various in silico prediction tools, accurately assessing the pathogenicity of splice-region variants remains limited. In this study, 18 splice-region variants of uncertain significance (VUSs) were functionally ch...
A Targeted LC-MS/MS-based Quantitative Assay for Detecting Plasma Factor XIII A/B Subunit Deficiency [0.03%]
一种用于检测血浆凝血因子FXIII亚基缺乏的靶向LC-MS/MS定量方法
Jinyong Kim,Shilpa Venkataraman,Sandip N Chavan et al.
Jinyong Kim et al.
Factor XIII (FXIII) is a heterotetramer that plays a critical role in the coagulation cascade, facilitating fibrin crosslinking to stabilize clots. Congenital or acquired deficiency of FXIII A or B subunits can lead to prolonged bleeding. E...