A Mixed-Effect Kernel Machine Regression Model for Integrative Analysis of Alpha Diversity in Microbiome Studies [0.03%]
一项用于整合分析微生物组研究中α多样性的混合效应核机器回归模型
Runzhe Li,Mo Li,Ni Zhao
Runzhe Li
Increasing evidence suggests that human microbiota plays a crucial role in many diseases. Alpha diversity, a commonly used summary statistic that captures the richness and/or evenness of the microbial community, has been associated with man...
Hanyun Liu,Hong Zhang
Hanyun Liu
Most genome-wide association studies are based on case-control designs, which provide abundant resources for secondary phenotype analyses. However, such studies suffer from biased sampling of primary phenotypes, and the traditional statisti...
Enhancing Gene Expression Predictions Using Deep Learning and Functional Annotations [0.03%]
基于深度学习和功能注释的基因表达预测研究
Pratik Ramprasad,Jingchen Ren,Wei Pan
Pratik Ramprasad
Transcriptome-wide association studies (TWAS) aim to uncover genotype-phenotype relationships through a two-stage procedure: predicting gene expression from genotypes using an expression quantitative trait locus (eQTL) data set, then testin...
PSAP-Genomic-Regions: A Method Leveraging Population Data to Prioritize Coding and Non-Coding Variants in Whole Genome Sequencing for Rare Disease Diagnosis [0.03%]
基于人群数据的罕见病全基因组测序编码和非编码变异优先级排序方法-PSAP-Genomic-Regions
Marie-Sophie C Ogloblinsky,Ozvan Bocher,Chaker Aloui et al.
Marie-Sophie C Ogloblinsky et al.
The introduction of Next-Generation Sequencing technologies in the clinics has improved rare disease diagnosis. Nonetheless, for very heterogeneous or very rare diseases, more than half of cases still lack molecular diagnosis. Novel strateg...
Comparing Ancestry Standardization Approaches for a Transancestry Colorectal Cancer Polygenic Risk Score [0.03%]
跨祖先结直肠癌多基因风险评分的祖先标准化方法比较
Elisabeth A Rosenthal,Li Hsu,Minta Thomas et al.
Elisabeth A Rosenthal et al.
Colorectal cancer (CRC) is a complex disease with monogenic, polygenic and environmental risk factors. Polygenic risk scores (PRSs) aim to identify high polygenic risk individuals. Due to differences in genetic background, PRS distributions...
Comparative Study
Genetic epidemiology. 2025 Jan;49(1):e22590. DOI:10.1002/gepi.22590 2025
Ethical, Legal, and Social Implications of Gene-Environment Interaction Research [0.03%]
基因与环境相互作用研究的伦理、法律和社会影响
Stephanie Calluori,Kaitlin Kirkpatrick Heimke,Charlisse Caga-Anan et al.
Stephanie Calluori et al.
Many complex disorders are impacted by the interplay of genetic and environmental factors. In gene-environment interactions (GxE), an individual's genetic and epigenetic makeup impacts the response to environmental exposures. Understanding ...
Predicting Lung Cancer in Korean Never-Smokers With Polygenic Risk Scores [0.03%]
基于多基因风险评分预测韩国从不吸烟者肺癌发病风险
Juyeon Kim,Young Sik Park,Jin Hee Kim et al.
Juyeon Kim et al.
In the last few decades, genome-wide association studies (GWAS) with more than 10,000 subjects have identified several loci associated with lung cancer and these loci have been used to develop novel risk prediction tools for cancer. The pre...
Exploring and Accounting for Genetically Driven Effect Heterogeneity in Mendelian Randomization [0.03%]
探索并解释孟德尔随机化中由遗传驱动的效应异质性
Annika Jaitner,Krasimira Tsaneva-Atanasova,Rachel M Freathy et al.
Annika Jaitner et al.
Mendelian randomization (MR) is a framework to estimate the causal effect of a modifiable health exposure, drug target or pharmaceutical intervention on a downstream outcome by using genetic variants as instrumental variables. A crucial ass...
Using clustering of genetic variants in Mendelian randomization to interrogate the causal pathways underlying multimorbidity from a common risk factor [0.03%]
利用孟德尔随机化中的基因变异聚类来探究共同风险因素多发病的因果途径
Xiaoran Liang,Ninon Mounier,Nicolas Apfel et al.
Xiaoran Liang et al.
Mendelian randomization (MR) is an epidemiological approach that utilizes genetic variants as instrumental variables to estimate the causal effect of an exposure on a health outcome. This paper investigates an MR scenario in which genetic v...
Exploring pleiotropy in Mendelian randomisation analyses: What are genetic variants associated with 'cigarette smoking initiation' really capturing? [0.03%]
孟德尔随机化研究中的多效性探究：“初涉吸烟”的遗传变异究竟反映了什么？
Zoe E Reed,Robyn E Wootton,Jasmine N Khouja et al.
Zoe E Reed et al.
Genetic variants used as instruments for exposures in Mendelian randomisation (MR) analyses may have horizontal pleiotropic effects (i.e., influence outcomes via pathways other than through the exposure), which can undermine the validity of...