Best practices for multi-ancestry, meta-analytic transcriptome-wide association studies: Lessons from the Global Biobank Meta-analysis Initiative [0.03%]
多祖先、荟萃分析转录组关联研究的最佳实践：来自全球生物库荟萃分析计划的启示
Arjun Bhattacharya,Jibril B Hirbo,Dan Zhou et al.
Arjun Bhattacharya et al.
The Global Biobank Meta-analysis Initiative (GBMI), through its diversity, provides a valuable opportunity to study population-wide and ancestry-specific genetic associations. However, with multiple ascertainment strategies and multi-ancest...
Single-cell multiome of the human retina and deep learning nominate causal variants in complex eye diseases [0.03%]
人类视网膜单细胞多组学和深度学习鉴定复杂眼病的致病突变
Sean K Wang,Surag Nair,Rui Li et al.
Sean K Wang et al.
Genome-wide association studies (GWASs) of eye disorders have identified hundreds of genetic variants associated with ocular disease. However, the vast majority of these variants are noncoding, making it challenging to interpret their funct...
Yashwanth Lagisetty,Thomas Bourquard,Ismael Al-Ramahi et al.
Yashwanth Lagisetty et al.
Most disease-gene association methods do not account for gene-gene interactions, even though these play a crucial role in complex, polygenic diseases like Alzheimer's disease (AD). To discover new genes whose interactions may contribute to ...
Gregory R Keele,Tian Zhang,Duy T Pham et al.
Gregory R Keele et al.
Genetically diverse mouse populations are powerful tools for characterizing the regulation of the proteome and its relationship to whole-organism phenotypes. We used mass spectrometry to profile and quantify the abundance of 6,798 proteins ...
A regulatory network of Sox and Six transcription factors initiate a cell fate transformation during hearing regeneration in adult zebrafish [0.03%]
Sox和Six转录因子的调控网络在成年斑马鱼听觉再生过程中诱导细胞命运转变
Erin Jimenez,Claire C Slevin,Wei Song et al.
Erin Jimenez et al.
Using adult zebrafish inner ears as a model for sensorineural regeneration, we ablated the mechanosensory receptors and characterized the single-cell epigenome and transcriptome at consecutive time points during hair cell regeneration. We u...
Vinay K Kartha,Fabiana M Duarte,Yan Hu et al.
Vinay K Kartha et al.
Cells require coordinated control over gene expression when responding to environmental stimuli. Here we apply scATAC-seq and single-cell RNA sequencing (scRNA-seq) in resting and stimulated human blood cells. Collectively, we generate ~91,...
A patient-driven clinicogenomic partnership for metastatic prostate cancer [0.03%]
前列腺癌患者的clinicogenomic合作项目
Jett Crowdis,Sara Balch,Lauren Sterlin et al.
Jett Crowdis et al.
Molecular profiling studies have enabled discoveries for metastatic prostate cancer (MPC) but have predominantly occurred in academic medical institutions and involved non-representative patient populations. We established the Metastatic Pr...
Recommendations on the use and reporting of race, ethnicity, and ancestry in genetic research: Experiences from the NHLBI TOPMed program [0.03%]
遗传研究中种族、族裔和祖先使用及报告的建议——NHLBI TOPMed项目的经验
Alyna T Khan,Stephanie M Gogarten,Caitlin P McHugh et al.
Alyna T Khan et al.
How race, ethnicity, and ancestry are used in genomic research has wide-ranging implications for how research is translated into clinical care and incorporated into public understanding. Correlation between race and genetic ancestry contrib...
Workshop proceedings: GWAS summary statistics standards and sharing [0.03%]
workshop proceeding: GWAS 纳入统计量的标准和共享
Jacqueline A L MacArthur,Annalisa Buniello,Laura W Harris et al.
Jacqueline A L MacArthur et al.
Genome-wide association studies (GWASs) have enabled robust mapping of complex traits in humans. The open sharing of GWAS summary statistics (SumStats) is essential in facilitating the larger meta-analyses needed for increased power in reso...
Karyotype engineering reveals spatio-temporal control of replication firing and gene contacts [0.03%]
染色体构型工程揭示了复制起始和基因相互作用的时空动态关系
Luciana Lazar-Stefanita,Jingchuan Luo,Remi Montagne et al.
Luciana Lazar-Stefanita et al.
Eukaryotic genomes vary in terms of size, chromosome number, and genetic complexity. Their temporal organization is complex, reflecting coordination between DNA folding and function. Here, we used fused karyotypes of budding yeast to charac...