International federation of genomic medicine databases using GA4GH standards [0.03%]
采用GA4GH标准的国际基因组医学数据库联合会
Adrian Thorogood,Heidi L Rehm,Peter Goodhand et al.
Adrian Thorogood et al.
We promote a shared vision and guide for how and when to federate genomic and health-related data sharing, enabling connections and insights across independent, secure databases. The GA4GH encourages a federated approach wherein data provid...
Machine learning optimized polygenic scores for blood cell traits identify sex-specific trajectories and genetic correlations with disease [0.03%]
机器学习优化的多基因评分（Polygenic Scores）用于血液细胞特征，识别性别特异性轨迹和遗传相关性与疾病之间的关系
Yu Xu,Dragana Vuckovic,Scott C Ritchie et al.
Yu Xu et al.
Genetic association studies for blood cell traits, which are key indicators of health and immune function, have identified several hundred associations and defined a complex polygenic architecture. Polygenic scores (PGSs) for blood cell tra...
GA4GH: International policies and standards for data sharing across genomic research and healthcare [0.03%]
GA4GH：跨基因组学研究和医疗保健的数据共享的国际政策和标准
Heidi L Rehm,Angela J H Page,Lindsay Smith et al.
Heidi L Rehm et al.
The Global Alliance for Genomics and Health (GA4GH) aims to accelerate biomedical advances by enabling the responsible sharing of clinical and genomic data through both harmonized data aggregation and federated approaches. The decreasing co...
Association of mitochondrial DNA copy number with cardiometabolic diseases [0.03%]
线粒体DNA拷贝数与心血管代谢性疾病的关系
Xue Liu,Ryan J Longchamps,Kerri L Wiggins et al.
Xue Liu et al.
Mitochondrial DNA (mtDNA) is present in multiple copies in human cells. We evaluated cross-sectional associations of whole blood mtDNA copy number (CN) with several cardiometabolic disease traits in 408,361 participants of multiple ancestri...
PCR amplicons identify widespread copy number variation in human centromeric arrays and instability in cancer [0.03%]
人类着丝粒阵列中的广泛拷贝数变异及其在癌症中表现出的不稳定性
Leonardo Gomes de Lima,Edmund Howe,Vijay Pratap Singh et al.
Leonardo Gomes de Lima et al.
Centromeric α-satellite repeats represent ~6% of the human genome, but their length and repetitive nature make sequencing and analysis of those regions challenging. However, centromeres are essential for the stable propagation of chromosom...
GWAS of stool frequency provides insights into gastrointestinal motility and irritable bowel syndrome [0.03%]
基于粪便频率的基因组研究为胃肠运动和肠易综合征提供见解
Ferdinando Bonfiglio,Xingrong Liu,Christopher Smillie et al.
Ferdinando Bonfiglio et al.
Gut dysmotility is associated with constipation, diarrhea, and functional gastrointestinal disorders like irritable bowel syndrome (IBS), although its molecular underpinnings are poorly characterized. We studied stool frequency (defined by ...
Machine learning enables new insights into genetic contributions to liver fat accumulation [0.03%]
机器学习使人们能够深入研究基因对肝脏脂肪堆积的影响
Mary E Haas,James P Pirruccello,Samuel N Friedman et al.
Mary E Haas et al.
Excess liver fat, called hepatic steatosis, is a leading risk factor for end-stage liver disease and cardiometabolic diseases but often remains undiagnosed in clinical practice because of the need for direct imaging assessments. We develope...
Aoife McMahon,Elizabeth Lewis,Annalisa Buniello et al.
Aoife McMahon et al.
Genome sequencing has recently become a viable genotyping technology for use in genome-wide association studies (GWASs), offering the potential to analyze a broader range of genome-wide variation, including rare variants. To survey current ...
GA4GH Passport standard for digital identity and access permissions [0.03%]
GA4GH护照标准：用于数字身份和访问权限的标准
Craig Voisin,Mikael Linden,Stephanie O M Dyke et al.
Craig Voisin et al.
The Global Alliance for Genomics and Health (GA4GH) supports international standards that enable a federated data sharing model for the research community while respecting data security, ethical and regulatory frameworks, and data authoriza...
The Data Use Ontology to streamline responsible access to human biomedical datasets [0.03%]
用于简化人类生物医学数据集负责任访问的数据使用本体结构
Jonathan Lawson,Moran N Cabili,Giselle Kerry et al.
Jonathan Lawson et al.
Human biomedical datasets that are critical for research and clinical studies to benefit human health also often contain sensitive or potentially identifying information of individual participants. Thus, care must be taken when they are pro...