Contribution of germline and somatic mutations to risk of neuromyelitis optica spectrum disorder [0.03%]
发生成年型视神经脊髓炎光谱障碍的种系突变和体细胞突变的作用
Tomohiro Yata,Go Sato,Kotaro Ogawa et al.
Tomohiro Yata et al.
Neuromyelitis optica spectrum disorder (NMOSD) is a rare autoimmune disease characterized by optic neuritis and transverse myelitis, with an unclear genetic background. A genome-wide meta-analysis of NMOSD in Japanese individuals (240 patie...
Deep learning imputes DNA methylation states in single cells and enhances the detection of epigenetic alterations in schizophrenia [0.03%]
深度学习填补单细胞中的DNA甲基化状态，并提高精神分裂症中表观遗传学改变的检测能力
Jiyun Zhou,Chongyuan Luo,Hanqing Liu et al.
Jiyun Zhou et al.
DNA methylation (DNAm) is a key epigenetic mark with essential roles in gene regulation, mammalian development, and human diseases. Single-cell technologies enable profiling DNAm at cytosines in individual cells, but they often suffer from ...
Yoolim Annie Choi,Yebin Kim,Peihan Miao et al.
Yoolim Annie Choi et al.
Understanding the relationship between genotypes and phenotypes is crucial for advancing personalized medicine. Expression quantitative trait loci (eQTL) mapping plays a significant role by correlating genetic variants to gene expression le...
Hector L Franco
Hector L Franco
Hector Franco is a group leader at the University of Puerto Rico Comprehensive Cancer Center (UPRCCC), having re-located from the University of North Carolina in 2023. His laboratory focuses on gene regulation, non-coding RNA, and the tumor...
Wen Zhang,Xiaohong Wu,Jing Gong
Wen Zhang
In this issue of Cell Genomics, Choi et al.1 report a novel approach, privateQTL, which leverages secure multiparty computation (MPC) to enable federated expression quantitative trait loci (eQTL) mapping across institutions without compromi...
STMiner: Gene-centric spatial transcriptomics for deciphering tumor tissues [0.03%]
STMiner：解析肿瘤组织的以基因为中心的空间转录组学
Peisen Sun,Stephen J Bush,Songbo Wang et al.
Peisen Sun et al.
Analyzing spatial transcriptomics data from tumor tissues poses several challenges beyond those of healthy samples, including unclear boundaries between different regions, uneven cell densities, and relatively higher cellular heterogeneity....
Single-cell delineation of the microbiota-gut-brain axis: Probiotic intervention in Chd8 haploinsufficient mice [0.03%]
单细胞解析菌群-肠-脑轴：Chd8半缺失小鼠的益生菌干预
Peifeng Ji,Ning Wang,You Yu et al.
Peifeng Ji et al.
Emerging research underscores the gut microbiome's impact on the nervous system via the microbiota-gut-brain axis, yet comprehensive insights remain limited. Using a CHD8-haploinsufficient model for autism spectrum disorder (ASD), we explor...
Characterization and bioinformatic filtering of ambient gRNAs in single-cell CRISPR screens using CLEANSER [0.03%]
利用CLEANSER表征和生物信息学过滤单细胞CRISPR筛选中的环境gRNA
Siyan Liu,Marisa C Hamilton,Thomas Cowart et al.
Siyan Liu et al.
Single-cell RNA sequencing CRISPR (perturb-seq) screens enable high-throughput investigation of the genome, allowing for characterization of thousands of genomic perturbations on gene expression. Ambient gRNAs, which are contaminating gRNAs...
Defining the regulatory logic of breast cancer using single-cell epigenetic and transcriptome profiling [0.03%]
利用单细胞表观基因组和转录组分析定义乳腺癌的调控逻辑
Matthew J Regner,Susana Garcia-Recio,Aatish Thennavan et al.
Matthew J Regner et al.
Annotation of cis-regulatory elements that drive transcriptional dysregulation in cancer cells is critical to understanding tumor biology. Herein, we present matched chromatin accessibility (single-cell assay for transposase-accessible chro...
Defining hypoxia in cancer: A landmark evaluation of hypoxia gene expression signatures [0.03%]
定义癌症中的低氧状态：对缺氧基因表达信号的里程碑式评估
Matteo Di Giovannantonio,Fiona Hartley,Badran Elshenawy et al.
Matteo Di Giovannantonio et al.
Tumor hypoxia drives metabolic shifts, cancer progression, and therapeutic resistance. Challenges in quantifying hypoxia have hindered the exploitation of this potential "Achilles' heel." While gene expression signatures have shown promise ...