Genetics of Latin American Diversity Project: Insights into population genetics and association studies in admixed groups in the Americas [0.03%]
拉丁美洲多样性基因组计划：美洲混血人群体遗传和关联研究的新见解
Victor Borda,Douglas P Loesch,Bing Guo et al.
Victor Borda et al.
Latin Americans are underrepresented in genetic studies, increasing disparities in personalized genomic medicine. Despite available genetic data from thousands of Latin Americans, accessing and navigating the bureaucratic hurdles for consen...
Single-cell multi-modal integrative analyses highlight functional dynamic gene regulatory networks directing human cardiac development [0.03%]
单细胞多模态整合分析揭示了调控人类心脏发育的功能动态基因调节网络
Alyssa R Holman,Shaina Tran,Eugin Destici et al.
Alyssa R Holman et al.
Illuminating the precise stepwise genetic programs directing cardiac development provides insights into the mechanisms of congenital heart disease and strategies for cardiac regenerative therapies. Here, we integrate in vitro and in vivo hu...
Mechanism-free repurposing of drugs for C9orf72-related ALS/FTD using large-scale genomic data [0.03%]
基于大规模基因组数据的C9orf72相关ALS/FTD药物重定位（无需机制研究）
Sara Saez-Atienzar,Cleide Dos Santos Souza,Ruth Chia et al.
Sara Saez-Atienzar et al.
Repeat expansions in the C9orf72 gene are the most common genetic cause of (ALS) and frontotemporal dementia (FTD). Like other genetic forms of neurodegeneration, pinpointing the precise mechanism(s) by which this mutation leads to neuronal...
Leveraging genomes to support conservation and bioeconomy policies in a megadiverse country [0.03%]
利用基因组支持生物多样性的保护和生物经济政策
Sibelle Torres Vilaça,Amanda F Vidal,Ana Carolina D&#x;Oliveira Pavan et al.
Sibelle Torres Vilaça et al.
The biodiversity crisis is a global phenomenon, and measures to monitor, stop, and revert the impacts on species' extinction risk are urgently needed. Megadiverse countries, especially in the Global South, are responsible for managing and p...
Long-read sequencing of an advanced cancer cohort resolves rearrangements, unravels haplotypes, and reveals methylation landscapes [0.03%]
长读序技术揭示晚期癌症患者的染色体结构变异、单倍体型及甲基化图谱
Kieran O&#x;Neill,Erin Pleasance,Jeremy Fan et al.
Kieran O&#x;Neill et al.
The Long-Read Personalized OncoGenomics (POG) dataset comprises a cohort of 189 patient tumors and 41 matched normal samples sequenced using the Oxford Nanopore Technologies PromethION platform. This dataset from the POG program and the Mar...
Analysis of single-cell CRISPR perturbations indicates that enhancers predominantly act multiplicatively [0.03%]
单细胞CRISPR干扰分析表明增强子主要以乘法方式起作用
Jessica L Zhou,Karthik Guruvayurappan,Shushan Toneyan et al.
Jessica L Zhou et al.
A single gene may have multiple enhancers, but how they work in concert to regulate transcription is poorly understood. To analyze enhancer interactions throughout the genome, we developed a generalized linear modeling framework, GLiMMIRS, ...
Complex structural variation is prevalent and highly pathogenic in pediatric solid tumors [0.03%]
儿童实体瘤中普遍存在复杂的结构变异且这些变异高度致病
Ianthe A E M van Belzen,Marc van Tuil,Shashi Badloe et al.
Ianthe A E M van Belzen et al.
In pediatric cancer, structural variants (SVs) and copy-number alterations contribute to cancer initiation as well as progression, thereby aiding diagnosis and treatment stratification. Although suggested to be of importance, the prevalence...
Gene regulatory network inference from CRISPR perturbations in primary CD4+ T cells elucidates the genomic basis of immune disease [0.03%]
基于CRISPR扰动的初级CD4+t细胞基因调控网络推理阐明了免疫疾病的基因组基础
Joshua S Weinstock,Maya M Arce,Jacob W Freimer et al.
Joshua S Weinstock et al.
The effects of genetic variation on complex traits act mainly through changes in gene regulation. Although many genetic variants have been linked to target genes in cis, the trans-regulatory cascade mediating their effects remains largely u...
Advances in using non-invasive prenatal testing to study genomics related to maternity [0.03%]
非侵入性产前检测在母婴基因组研究中的应用进展
Xin Jin,Xun Xu,Aifen Zhou et al.
Xin Jin et al.
The loach haplotype-resolved genome and the identification of Mex3a involved in fish air breathing [0.03%]
鱼龙基因组和参与鱼类空气呼吸的Mex3a基因的鉴定
Bing Sun,Qingshan Li,Xinxin Xiao et al.
Bing Sun et al.
Fish air breathing is crucial for the transition of vertebrates from water to land. So far, the genes involved in fish air breathing have not been well identified. Here, we performed gene enrichment analysis of positively selected genes (PS...