A bench-to-data analysis workflow for respiratory syncytial virus whole-genome sequencing with short and long-read approaches [0.03%]
基于短读和长读方法的呼吸道合胞病毒全基因组测序的实验到数据分析工作流程
Adrián Gómez-Del Rosario,Adrián Muñoz-Barrera,Julia Alcoba-Florez et al.
Adrián Gómez-Del Rosario et al.
Genomic surveillance of respiratory syncytial virus (RSV) enables detecting and monitoring of circulating lineages and the emergence of amino acid substitutions affecting transmission, severity, and treatment. We present a comprehensive wor...
Aligned cross-modal integration and regulatory heterogeneity characterization of single-cell multiomic data with deep contrastive learning [0.03%]
基于深度对比学习的单细胞多组学数据对齐跨模态整合与调控异质性解析
Yue Cheng,Yanchi Su,Yi Fan et al.
Yue Cheng et al.
Background: Single-cell multi-omics (scMulti-omics) technologies have revolutionized our understanding of cellular functions and interactions by enabling the simultaneous measurement of diverse cellular modalities. Integr...
Genome-wide methylation detection and episignature analysis using PacBio long-read sequencing [0.03%]
基于PacBio长读测序的全基因组甲基化检测及表观遗传标志分析
Véronique Ivashchenko,Michelle de Groot,Ronny Derks et al.
Véronique Ivashchenko et al.
Background: The detection of 5-methylcytosine (5mC) patterns in the human genome is relevant for the diagnosis of various genetic conditions. Genome-wide methylation episignatures provide a new approach for resolving vari...
Malaria-MOI: A flexible and scalable tool for predicting multiplicity of infection in malaria parasites [0.03%]
疟疾-MOI：一种预测疟原虫感染多重性的灵活且可扩展的工具
Nina Billows,Jody Phelan,Joseph Thorpe et al.
Nina Billows et al.
Exploring phenotype-related single-cells through attention-enhanced representation learning [0.03%]
通过增强表示学习探索与表型相关的单细胞
Qinhua Wu,Junxiang Ding,Ruikun He et al.
Qinhua Wu et al.
Multimodal-based analysis of single-cell ATAC-seq data enables highly accurate delineation of clinically relevant tumor cell subpopulations [0.03%]
基于多模态的单细胞ATAC测序数据分析能够准确划分临床相关的肿瘤细胞亚群
Kewei Xiong,Wei Wang,Ruofan Ding et al.
Kewei Xiong et al.
Long-read genome sequencing enhances diagnostics of pediatric neurological disorders [0.03%]
长读长基因组测序可提高儿科神经疾病诊断率
Marlene Ek,Malin Kvarnung,Esmee Ten Berk de Boer et al.
Marlene Ek et al.
Background: Singleton short-read genome sequencing (GS) is increasingly used as a first-line genetic test for childhood neurological disorders (such as intellectual disability, neurodevelopmental delay, motor delay, and h...
Multi-centered T cell repertoire profiling identifies alterations in the immune repertoire of individuals with inflammatory bowel disease across different disease stages [0.03%]
基于多中心的T细胞受体文库测序揭示了炎症性肠病患者不同疾病阶段中免疫受体的变化特征
Aya K H Mahdy,Hesham ElAbd,Érika Endo Kokubun et al.
Aya K H Mahdy et al.
Background: Inflammatory bowel disease (IBD) is an incurable immune-mediated inflammatory disease, affecting the gut with a high rate of primary- and secondary- loss-of-response to therapy. By investigating the T cell rec...
DNA methylation analysis of NOTCH1 variants reveals the first episignature for non-syndromic congenital heart defects [0.03%]
NOTCH1变异的DNA甲基化分析揭示了第一个非综合症先天性心脏病表观标志
Gregor Dombrowsky,Liselot van der Laan,Ananília Silva et al.
Gregor Dombrowsky et al.
Background: Congenital heart defects (CHDs) are the most common malformation amongst newborns, with a prevalence of approximately 0.8-2%. The etiology of CHD is highly complex and can be linked to genetic and nongenetic f...
Detection of primary cancer types via fragment size selection in circulating cell-free extrachromosomal circular DNA [0.03%]
通过循环细胞外染色体外环状DNA的片段大小选择检测原发癌类型
Jingwen Fang,Songwen Luo,Shouzhen Li et al.
Jingwen Fang et al.