Proteome-wide assessment of differential missense variant clustering in neurodevelopmental disorders and cancer [0.03%]
神经发育障碍和癌症中差异错义变异聚类的蛋白质组范围评估
Jeffrey K Ng,Yilin Chen,Titilope M Akinwe et al.
Jeffrey K Ng et al.
Prior studies examining genomic variants suggest that some proteins contribute to both neurodevelopmental disorders (NDDs) and cancer. While there are several potential etiologies, here, we hypothesize that missense variation in proteins oc...
Capturing cell-type-specific activities of cis-regulatory elements from peak-based single-cell ATAC-seq [0.03%]
基于峰值的单细胞ATAC序列捕获顺式调控元件的细胞类型特异性活动
Mengjie Chen
Mengjie Chen
Single-cell ATAC sequencing (scATAC-seq), a state-of-the-art genomic technique designed to map chromatin accessibility at the single-cell level, presents unique analytical challenges due to limited sampling and data sparsity. In this study,...
Multiomics reveal key inflammatory drivers of severe obesity: IL4R, LILRA5, and OSM [0.03%]
多组学揭示严重肥胖的关键炎症驱动因素：IL4R、LILRA5 和 OSM
Hung-Hsin Chen,Heather M Highland,Elizabeth G Frankel et al.
Hung-Hsin Chen et al.
Polygenic severe obesity (body mass index [BMI] ≥40 kg/m2) has increased, especially in Hispanic/Latino populations, yet we know little about the underlying mechanistic pathways. We analyzed whole-blood multiomics data to identify genes di...
Germline variants and mosaic chromosomal alterations affect COVID-19 vaccine immunogenicity [0.03%]
生殖系变异和嵌合染色体改变影响COVID-19疫苗的免疫原性
Kyuto Sonehara,Yoshifumi Uwamino,Ryunosuke Saiki et al.
Kyuto Sonehara et al.
Vaccine immunogenicity is influenced by the vaccinee's genetic background. Here, we perform a genome-wide association study of vaccine-induced SARS-CoV-2-specific immunoglobulin G (IgG) antibody titers and T cell immune responses in 1,559 m...
A highland-adaptation variant near MCUR1 reduces its transcription and attenuates erythrogenesis in Tibetans [0.03%]
MCUR1基因附近的一种高海拔适应变异通过降低其转录水平减弱藏族人的红细胞生成
Jie Ping,Xinyi Liu,Yiming Lu et al.
Jie Ping et al.
To identify genomic regions subject to positive selection that might contain genes involved in high-altitude adaptation (HAA), we performed a genome-wide scan by whole-genome sequencing of Tibetan highlanders and Han lowlanders. We revealed...
Genomic garden: From societal and scientific impacts to biodiversity conservation [0.03%]
基因组花园：从社会和科学影响到生物多样性保护
Abner Herbert Lim,Cedric Chuan Young Ng,Jing Han Hong et al.
Abner Herbert Lim et al.
Because of urbanization, deforestation, pollution, climate change, and natural disasters, the loss of biodiversity is a pressing concern globally. As part of our efforts toward biodiversity conservation, we propose the establishment of a ge...
Yoong Khean Khoo,Suci Wulandari,Marya Getchell et al.
Yoong Khean Khoo et al.
Sustaining and expanding genomic surveillance capacity requires broader investment in genomics that target both novel and pandemic pathogens. Currently, there is no standardized methodology to evaluate the cost and benefit of a multi-pathog...
Transfer learning reveals sequence determinants of the quantitative response to transcription factor dosage [0.03%]
迁移学习揭示了对转录因子剂量有定量反应的序列决定因素
Sahin Naqvi,Seungsoo Kim,Saman Tabatabaee et al.
Sahin Naqvi et al.
Deep learning models have advanced our ability to predict cell-type-specific chromatin patterns from transcription factor (TF) binding motifs, but their application to perturbed contexts remains limited. We applied transfer learning to pred...
Tess K Fallon,Kristin A Knouse
Tess K Fallon
Genome-wide CRISPR screening in the organism has tremendous potential to answer long-standing questions of mammalian physiology and disease. However, bringing this powerful technology in vivo presents unique challenges, including delivering...
Multiomic QTL mapping reveals phenotypic complexity of GWAS loci and prioritizes putative causal variants [0.03%]
多组学QTL定位揭示了GWAS位点的表型复杂性并优先考虑潜在的原因变异体
Timothy D Arthur,Jennifer P Nguyen,Benjamin A Henson et al.
Timothy D Arthur et al.
Most GWAS loci are presumed to affect gene regulation; however, only ∼43% colocalize with expression quantitative trait loci (eQTLs). To address this colocalization gap, we map eQTLs, chromatin accessibility QTLs (caQTLs), and histone acet...