Streamlining large-scale genomic data management: Insights from the UK Biobank whole-genome sequencing data [0.03%]
大规模基因组数据管理的优化——来自英国生物银行全基因组测序数据的启示
Xihao Li,Andrew R Wood,Yuxin Yuan et al.
Xihao Li et al.
Biobank-scale whole-genome sequencing (WGS) studies are increasingly pivotal in unraveling the genetic bases of diverse health outcomes. However, managing and analyzing these datasets' sheer volume and complexity presents significant challe...
Cell-type-specific dysregulation of gene expression due to Chd8 haploinsufficiency during mouse cortical development [0.03%]
CHD8低剂量有功能会导致小鼠皮层发育过程中细胞特异性基因表达异常
Kristina M Yim,Marybeth Baumgartner,Martina Krenzer et al.
Kristina M Yim et al.
Disruptive variants in the chromodomain helicase CHD8 are associated with risk for autism spectrum disorder (ASD). CHD8 haploinsufficiency is hypothesized to contribute to ASD by perturbing neurodevelopmental gene expression. However, insig...
Single-nucleus transcriptome atlas of orbitofrontal cortex in ALS with a deep learning-based decoding of alternative polyadenylation mechanisms [0.03%]
基于深度学习的ALS轨道额叶皮层可变多腺苷酸化机制解码的单核转录组图谱
Paul M McKeever,Aiden M Sababi,Raghav Sharma et al.
Paul M McKeever et al.
Amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) are fatal neurodegenerative diseases sharing clinical and pathological features. Both involve complex neuron-glia interactions, but cell-type-specific alterati...
Identification of novel type 1 and type 2 diabetes genes by co-localization of human islet eQTL and GWAS variants with colocRedRibbon [0.03%]
通过人类胰岛表达定量性状基因座(eQTL)和GWAS变异的共定位识别新的1型糖尿病和2型糖尿病易感基因
Anthony Piron,Florian Szymczak,Lise Folon et al.
Anthony Piron et al.
Over 1,000 genetic variants have been associated with diabetes by genome-wide association studies (GWASs), but for most, their functional impact is unknown; only 7% alter gene expression in pancreatic islets in expression quantitative trait...
3D chromatin structures precede genome activation in Drosophila embryogenesis [0.03%]
果蝇胚胎发育中染色体三维结构先于基因组激活出现
Gabriel A Dolsten,Evan M Cofer,Xin Yang Bing et al.
Gabriel A Dolsten et al.
3D chromatin structure is critical for the regulation of gene expression during development. Here we used Micro-C assays at 100-bp resolution to map genome organization in Drosophila melanogaster throughout the first half of embryogenesis. ...
Ternary-code DNA methylation dynamics: A new era for scalable mapping [0.03%]
三进制DNA甲基化动态学：可扩展图谱的新纪元
Yubin Zhou,Yun Huang
Yubin Zhou
The preview discusses the scalable platform for methylation-based trait mapping published in Cell Genomics by Goldberg et al.1 This work represents not only a methodological advance but also marks a conceptual shift toward scalable and high...
Genetic history and adaptation of Eurasian wild boars inform livestock breeding [0.03%]
欧亚野猪的遗传史和适应性研究为家猪育种提供信息
Ji Yang,Wen-Tian Wei,Meng-Hua Li
Ji Yang
Historical expansions of wild boars (Sus scrofa) across Eurasia have shaped phenotypic variation, genetic diversity, and local adaptation of their populations. The study by Wang et al.1 investigates the demographic history and genetic adapt...
Phenotypic pleiotropy of missense variants in human B cell confinement receptor P2RY8 [0.03%]
人类B细胞限制性受体P2RY8错义突变的多效性表型研究
Taylor N LaFlam,Christian B Billesbølle,Tuan Dinh et al.
Taylor N LaFlam et al.
Missense variants can have pleiotropic effects on protein function, and predicting these effects can be difficult. We performed near-saturation deep mutational scanning of P2RY8, a G protein-coupled receptor that promotes germinal center B ...
Detection of heterogeneous resistance mechanisms to tyrosine kinase inhibitors from cell-free DNA [0.03%]
从细胞游离DNA检测酪氨酸激酶抑制剂的异质性耐药机制
Heather A Parsons,Conor Messer,Katheryn Santos et al.
Heather A Parsons et al.
Though there has been substantial progress in the development of anti-human epidermal growth factor receptor 2 (HER2) therapies to treat HER2-positive metastatic breast cancer (MBC) within the past two decades, most patients still experienc...
Sebastian Palacios,Simone Bruno,Ron Weiss et al.
Sebastian Palacios et al.
Cells store information by means of chromatin modifications that persist through cell divisions and can hold gene expression silenced over generations. However, how these modifications may maintain other gene expression states has remained ...