Single nucleus multi-omics identifies human cortical cell regulatory genome diversity [0.03%]
单核多组学识别人类皮层细胞调控基因组多样性
Chongyuan Luo,Hanqing Liu,Fangming Xie et al.
Chongyuan Luo et al.
Single-cell technologies measure unique cellular signatures but are typically limited to a single modality. Computational approaches allow the fusion of diverse single-cell data types, but their efficacy is difficult to validate in the abse...
SuperDendrix algorithm integrates genetic dependencies and genomic alterations across pathways and cancer types [0.03%]
一种整合路径和癌症类型间基因依赖关系和基因组改变的算法(superdendrix)
Tae Yoon Park,Mark D M Leiserson,Gunnar W Klau et al.
Tae Yoon Park et al.
Recent genome-wide CRISPR-Cas9 loss-of-function screens have identified genetic dependencies across many cancer cell lines. Associations between these dependencies and genomic alterations in the same cell lines reveal phenomena such as onco...
Federated analysis of BRCA1 and BRCA2 variation in a Japanese cohort [0.03%]
在日本队列中联合分析BRCA1和BRCA2变异现象
James Casaletto,Michael Parsons,Charles Markello et al.
James Casaletto et al.
More than 40% of the germline variants in ClinVar today are variants of uncertain significance (VUSs). These variants remain unclassified in part because the patient-level data needed for their interpretation is siloed. Federated analysis c...
The GA4GH Variation Representation Specification: A computational framework for variation representation and federated identification [0.03%]
GA4GH变异表示规范：变异表示和联邦识别的计算框架
Alex H Wagner,Lawrence Babb,Gil Alterovitz et al.
Alex H Wagner et al.
Maximizing the personal, public, research, and clinical value of genomic information will require the reliable exchange of genetic variation data. We report here the Variation Representation Specification (VRS, pronounced "verse"), an exten...
Direct detection of RNA modifications and structure using single-molecule nanopore sequencing [0.03%]
基于单分子纳米孔测序的RNA修饰和结构直接检测技术
William Stephenson,Roham Razaghi,Steven Busan et al.
William Stephenson et al.
Modifications are present on many classes of RNA, including tRNA, rRNA, and mRNA. These modifications modulate diverse biological processes such as genetic recoding and mRNA export and folding. In addition, modifications can be introduced t...
CASCADE: high-throughput characterization of regulatory complex binding altered by non-coding variants [0.03%]
Cascade：利用 Cascade 高通量鉴定非编码变异调控复合物结合的改变
David Bray,Heather Hook,Rose Zhao et al.
David Bray et al.
Non-coding DNA variants (NCVs) impact gene expression by altering binding sites for regulatory complexes. New high-throughput methods are needed to characterize the impact of NCVs on regulatory complexes. We developed CASCADE (Customizable ...
Inverting the model of genomics data sharing with the NHGRI Genomic Data Science Analysis, Visualization, and Informatics Lab-space [0.03%]
NIH基因组数据科学分析、可视化和信息系统实验室空间（NHGRI GDS AVI-Lab）转型了基因组学数据共享模式
Michael C Schatz,Anthony A Philippakis,Enis Afgan et al.
Michael C Schatz et al.
The NHGRI Genomic Data Science Analysis, Visualization, and Informatics Lab-space (AnVIL; https://anvilproject.org) was developed to address a widespread community need for a unified computing environment for genomics data storage, manageme...
Drug screening and genome editing in human pancreatic cancer organoids identifies drug-gene interactions and candidates for off-label treatment [0.03%]
人胰腺癌类器官中的药物筛选和基因编辑鉴定出药物与基因的相互作用及转诊治疗候选项
Christian K Hirt,Tijmen H Booij,Linda Grob et al.
Christian K Hirt et al.
Pancreatic cancer (PDAC) is a highly aggressive malignancy for which the identification of novel therapies is urgently needed. Here, we establish a human PDAC organoid biobank from 31 genetically distinct lines, covering a representative ra...
International federation of genomic medicine databases using GA4GH standards [0.03%]
采用GA4GH标准的国际基因组医学数据库联合会
Adrian Thorogood,Heidi L Rehm,Peter Goodhand et al.
Adrian Thorogood et al.
We promote a shared vision and guide for how and when to federate genomic and health-related data sharing, enabling connections and insights across independent, secure databases. The GA4GH encourages a federated approach wherein data provid...
Machine learning optimized polygenic scores for blood cell traits identify sex-specific trajectories and genetic correlations with disease [0.03%]
机器学习优化的多基因评分（Polygenic Scores）用于血液细胞特征，识别性别特异性轨迹和遗传相关性与疾病之间的关系
Yu Xu,Dragana Vuckovic,Scott C Ritchie et al.
Yu Xu et al.
Genetic association studies for blood cell traits, which are key indicators of health and immune function, have identified several hundred associations and defined a complex polygenic architecture. Polygenic scores (PGSs) for blood cell tra...