Compact CRISPR genetic screens enabled by improved guide RNA library cloning [0.03%]
改进的guide RNA库克隆技术实现的紧凑型CRISPR基因筛选
Seok-Jin Heo,Lauren D Enriquez,Scot Federman et al.
Seok-Jin Heo et al.
CRISPR genome editing approaches theoretically enable researchers to define the function of each human gene in specific cell types, but challenges remain to efficiently perform genetic perturbations in relevant models. In this work, we deve...
Haplotype-resolved assembly of a tetraploid potato genome using long reads and low-depth offspring data [0.03%]
使用长读段和低深度后代数据解析四倍体马铃薯基因组的单倍体型组装
Rebecca Serra Mari,Sven Schrinner,Richard Finkers et al.
Rebecca Serra Mari et al.
Potato is one of the world's major staple crops, and like many important crop plants, it has a polyploid genome. Polyploid haplotype assembly poses a major computational challenge. We introduce a novel strategy for the assembly of polyploid...
Structure-primed embedding on the transcription factor manifold enables transparent model architectures for gene regulatory network and latent activity inference [0.03%]
基于转录因子流形的结构引导嵌入实现了用于基因调控网络和潜在活性推断的透明模型架构
Andreas Tjärnberg,Maggie Beheler-Amass,Christopher A Jackson et al.
Andreas Tjärnberg et al.
Background: Modeling of gene regulatory networks (GRNs) is limited due to a lack of direct measurements of genome-wide transcription factor activity (TFA) making it difficult to separate covariance and regulatory interact...
Trans-ancestral genome-wide association study of longitudinal pubertal height growth and shared heritability with adult health outcomes [0.03%]
跨祖先全基因组关联研究青春期身高增长及与成人健康结果的共同遗传性
Jonathan P Bradfield,Rachel L Kember,Anna Ulrich et al.
Jonathan P Bradfield et al.
Background: Pubertal growth patterns correlate with future health outcomes. However, the genetic mechanisms mediating growth trajectories remain largely unknown. Here, we modeled longitudinal height growth with Super-Impo...
Improved modeling of RNA-binding protein motifs in an interpretable neural model of RNA splicing [0.03%]
在可解释的RNA剪接神经模型中改进RNA结合蛋白基序的建模
Kavi Gupta,Chenxi Yang,Kayla McCue et al.
Kavi Gupta et al.
Sequence-specific RNA-binding proteins (RBPs) play central roles in splicing decisions. Here, we describe a modular splicing architecture that leverages in vitro-derived RNA affinity models for 79 human RBPs and the annotated human genome t...
Evaluating spatially variable gene detection methods for spatial transcriptomics data [0.03%]
空间转录组学数据中空间可变基因检测方法的评估
Carissa Chen,Hani Jieun Kim,Pengyi Yang
Carissa Chen
Background: The identification of genes that vary across spatial domains in tissues and cells is an essential step for spatial transcriptomics data analysis. Given the critical role it serves for downstream data interpret...
Liang Yang,Jiali Lyu,Xi Li et al.
Liang Yang et al.
Background: Deletion of haploinsufficient genes or duplication of triplosensitive ones results in phenotypic effects in a concentration-dependent manner, and the mechanisms underlying these dosage-sensitive effects remain...
Chromatin activity identifies differential gene regulation across human ancestries [0.03%]
染色质活性识别人类不同祖源之间的差异基因调控
Kade P Pettie,Maxwell Mumbach,Amanda J Lea et al.
Kade P Pettie et al.
Background: Current evidence suggests that cis-regulatory elements controlling gene expression may be the predominant target of natural selection in humans and other species. Detecting selection acting on these elements i...
scSNV-seq: high-throughput phenotyping of single nucleotide variants by coupled single-cell genotyping and transcriptomics [0.03%]
scSNV-seq：通过结合单细胞基因分型和转录组学对单核苷酸变异进行高通量表型分析
Sarah E Cooper,Matthew A Coelho,Magdalena E Strauss et al.
Sarah E Cooper et al.
CRISPR screens with single-cell transcriptomic readouts are a valuable tool to understand the effect of genetic perturbations including single nucleotide variants (SNVs) associated with diseases. Interpretation of these data is currently li...
ARMC5 controls the degradation of most Pol II subunits, and ARMC5 mutation increases neural tube defect risks in mice and humans [0.03%]
ARMC5 控制大多数 RNA 聚合酶 II 亚基的降解，ARMC5 突变会增加小鼠和人类神经管缺陷的风险
Hongyu Luo,Linjiang Lao,Kit Sing Au et al.
Hongyu Luo et al.
Background: Neural tube defects (NTDs) are caused by genetic and environmental factors. ARMC5 is part of a novel ubiquitin ligase specific for POLR2A, the largest subunit of RNA polymerase II (Pol II). ...