Conserved missense variant pathogenicity and correlated phenotypes across paralogous genes [0.03%]
同源基因中保守的错义变异致病性及其相关表型
Tobias Brünger,Alina Ivaniuk,Eduardo Pérez-Palma et al.
Tobias Brünger et al.
Background: The majority of missense variants in clinical genetic tests are classified as variants of uncertain significance. Prior research shows that the deleterious effects and the subsequent molecular consequences of ...
IT-scC&T-seq streamlines scalable, parallel profiling of protein-DNA interactions in single cells [0.03%]
IT-scCO&T-seq简化了单细胞中蛋白质- DNA相互作用的可扩展并行谱型分析
Jingchun Ma,Wei Jin,Li Rong et al.
Jingchun Ma et al.
Single-cell profiling protein-chromatin interactions is often constrained by complex workflows, high cost, or dependence on specialized equipment. We present indexed tagmentation-based single-cell CUT&Tag-sequencing (IT-scC&T-seq), a modula...
Systematic assessment of microenvironment-dependent transcriptional patterns and intercellular communication [0.03%]
系统评估微环境依赖性转录模式和细胞间通讯
Elena Pareja-Lorente,Patrick Aloy
Elena Pareja-Lorente
Background: Understanding cell-cell communication and its dependence on spatial organization is critical for unraveling tissue complexity and organ function, and it has been demonstrated that cells are influenced by their...
A new IDH-independent hypermethylation phenotype is associated with astrocyte-like cell state in glioblastoma [0.03%]
IDH阴性的新型高甲基化表型与胶质母细胞瘤中的星形胶质细胞状态相关
Ana Luisa Costa,Daria Doncevic,Yonghe Wu et al.
Ana Luisa Costa et al.
Background: DNA methylation plays a crucial role in cancer development and progression and has been linked to genetically and clinically distinct tumor classes, including IDH-mutated and IDH-wildtype adult-type diffuse gl...
Ensemblex: an accuracy-weighted ensemble genetic demultiplexing framework for population-scale scRNAseq sample pooling [0.03%]
基于群体规模的单细胞测序样本池化遗传解复用的准确性加权集成框架（Ensemblex）
Michael R Fiorini,Saeid Amiri,Allison A Dilliott et al.
Michael R Fiorini et al.
Multiplexing samples from distinct individuals prior to sequencing is a promising step towards achieving population-scale single-cell RNA sequencing by reducing the restrictive costs of the technology. Individual genetic demultiplexing tool...
Optimized in-solution enrichment of over a million ancient human SNPs [0.03%]
优化古人类过百万单核苷酸多态位点的溶液捕获方法
Roberta Davidson,Xavier Roca-Rada,Shyamsundar Ravishankar et al.
Roberta Davidson et al.
Background: In-solution hybridization enrichment of genetic markers is a method of choice in paleogenomic studies, where the DNA of interest is generally heavily fragmented and contaminated with environmental DNA, and whe...
Z-scores outperform similar methods for analyzing CRISPR paralog synthetic lethality screens [0.03%]
与CRISPR旁系同源物合成致死筛查分析的类似方法相比，Z分数的表现更佳
Juihsuan Chou,Nazanin Esmaeili Anvar,Reem Elghaish et al.
Juihsuan Chou et al.
Genetic screens offer a promising strategy for identifying tumor-specific therapeutic targets, but single-gene knockout screens often miss functionally redundant paralogs. Multiplex Cas9 and Cas12a CRISPR systems have been deployed to assay...
Maximum likelihood inference of time-scaled cell lineage trees with mixed-type missing data using LAML [0.03%]
基于混合型缺失数据的细胞谱系树的时间尺度的最大似然推断方法LAML
Gillian Chu,Uyen Mai,Henri Schmidt et al.
Gillian Chu et al.
Dynamic lineage tracing technologies combine genome editing with single-cell sequencing to track cell divisions. We introduce Lineage Analysis via Maximum Likelihood (LAML) to infer a maximum likelihood time-resolved cell lineage tree under...
Automated integration of multi-slice spatial transcriptomics data in 2D and 3D using VR-Omics [0.03%]
基于VR-Omics的多模态空间转录组大数据自动化二维和三维整合分析
Denis Bienroth,Natalie Charitakis,Dillon Wong et al.
Denis Bienroth et al.
The field of spatial transcriptomics is rapidly evolving, with increasing sample complexity, resolution, and tissue size. Yet the field lacks comprehensive and intuitive solutions for automated integration and analysis of multi-slice data i...
Deciphering gene regulatory programs in mouse embryonic skin through single-cell multiomics analysis [0.03%]
通过单细胞多组学分析解码小鼠胚胎皮肤基因调控程序
Qiuting Deng,Pengfei Cai,Yingjie Luo et al.
Qiuting Deng et al.
Background: Cell type-specific transcriptional heterogeneity in embryonic mouse skin is well-documented, but few studies have investigated the regulatory mechanisms. Here, we present high-throughput single-cell chromatin ...