Ke Wu,Francisco J Sánchez-Rivera
Ke Wu
Prime editing screens allow precise and scalable studies of genetic variants in their native genomic context but are limited by variable editing efficiency. In this issue of Cell Genomics, Herger, Kajba, et al.1 overcome these challenges by...
Genome-wide allele-specific expression in multi-tissue samples from healthy male baboons reveals the transcriptional complexity of mammals [0.03%]
来自健康雄性狒狒的多组织样本的全基因组单等位基因表达揭示了哺乳动物转录的复杂性
Ramesh Ramasamy,Muthuswamy Raveendran,R Alan Harris et al.
Ramesh Ramasamy et al.
Allele-specific expression (ASE) is pivotal in understanding the genetic underpinnings of phenotypic variation within species, differences in disease susceptibility, and responses to environmental factors. We processed 11 different tissue t...
Integration of biobank-scale genetics and plasma proteomics reveals evidence for causal processes in asthma risk and heterogeneity [0.03%]
整合生物样本库规模的遗传学和血浆蛋白质组学揭示了哮喘风险和异质性因果过程的证据
Lauren J Donoghue,Christian Benner,Diana Chang et al.
Lauren J Donoghue et al.
Hundreds of genetic associations for asthma have been identified, yet translating these findings into mechanistic insights remains challenging. We leveraged plasma proteomics from the UK Biobank Pharma Proteomics Project (UKB-PPP) to identi...
Single-cell meta-analysis of T cells reveals clonal dynamics of response to checkpoint immunotherapy [0.03%]
单细胞meta分析揭示检点免疫疗法的T细胞克隆动态变化规律
Ofir Shorer,Asaf Pinhasi,Keren Yizhak
Ofir Shorer
Despite the crucial role of T cell clones in anti-tumor activity, their characterization and association with clinical outcomes following immune checkpoint inhibitors are lacking. Here, we analyzed paired single-cell RNA sequencing/T cell r...
Variant-to-function approaches for adipose tissue: Insights into cardiometabolic disorders [0.03%]
用于脂肪组织的变异到功能方法：对心血管元病的理解
Sophia Metz,Jonathan Robert Belanich,Melina Claussnitzer et al.
Sophia Metz et al.
Genome-wide association studies (GWASs) have identified thousands of genetic loci associated with cardiometabolic disorders. However, the functional interpretation of these loci remains a daunting challenge. This is particularly true for ad...
Interpreting regulatory mechanisms of Hippo signaling through a deep learning sequence model [0.03%]
基于深度学习序列模型解读Hippo信号通路的调控机制
Khyati Dalal,Charles McAnany,Melanie Weilert et al.
Khyati Dalal et al.
Signaling pathway components are well studied, but how they mediate cell-type-specific transcription responses is an unresolved problem. Using the Hippo pathway in mouse trophoblast stem cells as a model, we show that the DNA binding of sig...
An atlas of single-cell eQTLs dissects autoimmune disease genes and identifies novel drug classes for treatment [0.03%]
单细胞eQTLs图谱解析自身免疫疾病基因并鉴定新型治疗药物类別
Lida Wang,Havell Markus,Dieyi Chen et al.
Lida Wang et al.
Most variants identified from genome-wide association studies (GWASs) are non-coding and regulate gene expression. However, many risk loci fail to colocalize with expression quantitative trait loci (eQTLs), potentially due to limited GWAS a...
Danilo Dubocanin,Gabrielle A Hartley,Adriana E Sedeño Cortés et al.
Danilo Dubocanin et al.
The attachment of the kinetochore to the centromere is essential for genome maintenance, yet the highly repetitive nature of satellite regional centromeres limits our understanding of their chromatin organization. We demonstrate that single...
Indels allow antiviral proteins to evolve functional novelty inaccessible by missense mutations [0.03%]
插入删除突变使得抗病毒蛋白质能够通过错义突变无法实现的方式演化出新的功能
Jeannette L Tenthorey,Serena Del Banco,Ishrak Ramzan et al.
Jeannette L Tenthorey et al.
Antiviral proteins often evolve rapidly at virus-binding interfaces to defend against new viruses. We investigated whether antiviral adaptation via missense mutations might face limits, which insertion or deletion mutations (indels) could o...
High-throughput screening of human genetic variants by pooled prime editing [0.03%]
池化 Prime 编辑的人类遗传变异的高通量筛选
Michael Herger,Christina M Kajba,Megan Buckley et al.
Michael Herger et al.
Multiplexed assays of variant effect (MAVEs) enable scalable functional assessment of human genetic variants. However, established MAVEs are limited by exogenous expression of variants or constraints of genome editing. Here, we introduce a ...