Identifying Causal Genotype-Phenotype Relationships for Population-Sampled Parent-Child Trios [0.03%]
基于群体样本的父母-子女三联体鉴定因果基因型-表型关系
Yushi Tang,Irineo Cabreros,John D Storey
Yushi Tang
The process by which genes are transmitted from parent to child provides a source of randomization preceding all other factors that may causally influence any particular child phenotype. Because of this, it is natural to consider genetic tr...
Moderating the Heritability of Body Mass Index by Age and Sex With Genomic Data [0.03%]
利用基因组数据通过年龄和性别调整BMI的遗传性
Sarah E Benstock,Elizabeth Prom-Wormley,Brad Verhulst
Sarah E Benstock
Environmental contexts may increase or decrease the heritability of a phenotype. Or equivalently, people with some genotypes may be more (or less) sensitive to environmental differences. Such genetic sensitivity to environmental contexts is...
Dylan Lawless,Ali Saadat,Mariam Ait Oumelloul et al.
Dylan Lawless et al.
Variant set association tests (VSAT), especially those incorporating rare variants via variant collapse, are invaluable in genetic studies. However, unlike Manhattan plots for single-variant tests, VSAT statistics lack intrinsic genomic coo...
Variant Classification Using Proteomics-Informed Large Language Models Increases Power of Rare Variant Association Studies and Enhances Target Discovery [0.03%]
基于蛋白质组学的大型语言模型在变异分类中的应用提高了稀有变异关联研究的功效并增强了目标发现能力
Christopher E Gillies,Joelle Mbatchou,Lukas Habegger et al.
Christopher E Gillies et al.
Rare variant association analysis, which assesses the aggregate effect of rare damaging variants within a gene, is a powerful strategy for advancing knowledge of human biology. Numerous models have been proposed to identify damaging coding ...
Adjustment for Genotype Imputation Uncertainty Corrects for Inflated Type I Error in Family-Based Association Testing [0.03%]
校正基因型填充的不确定性可纠正基于家系的关联分析假阳性率过高的问题
Tyler R C Day,Joshua C Bis,Nicola Chapman et al.
Tyler R C Day et al.
Genotype imputation is a widely-used data augmentation approach that is applied to samples of related and/or unrelated individuals. Association testing may then be carried out on the complete data with commonly-used methods. This approach h...
Vaishnavi Venkat,Kaylyn Clark,X Jessie Jeng et al.
Vaishnavi Venkat et al.
Genetic risk scores (GRS) are crucial tools for estimating an individual's genetic liability to various traits and diseases, computed as a weighted sum of trait-associated allele counts. Traditionally, GRS models assume additive, linear eff...
Associations of Herpes Simplex Virus Type 1/2 IgG Seropositivity and Arthritis Subtypes: Integrating Cross-Sectional Epidemiology and Genetic Association Analyses [0.03%]
单纯疱疹病毒1型/2型IgG血清阳性与类风湿关节炎亚型的相关性：横断面流行病学和遗传关联分析的整合
Haining Li,Zhen Shen,Changzhou Feng
Haining Li
Herpes simplex viruses (HSV) have been detected within the synovial joint cavity, a secluded area of inflammation that may harbor etiological agents. However, the role of HSV-1/2 infection in arthritis pathogenesis remains ambiguous. In thi...
The Complex Relationship of Genetic Ancestry With Self-Reported Race/Ethnicity [0.03%]
遗传背景与自我认定的种族/族裔之间的复杂关系
Yambazi Banda,Neil Risch
Yambazi Banda
Race and ethnicity are demographic constructs used to characterize individuals in biomedical research, and in particular to assess health disparities. Their use in medicine and research has been discussed and challenged, as well as the degr...
Sharon M Lutz,Kirsten Voorhies,John E Hokanson et al.
Sharon M Lutz et al.
Correcting for Genomic Inflation Leads to Loss of Power in Large-Scale Genome-Wide Association Study Meta-Analysis [0.03%]
校正全基因组膨胀会降低大规模全基因组关联研究元分析的功效
Archit Singh,Lorraine Southam,Konstantinos Hatzikotoulas et al.
Archit Singh et al.
Inflation in genome-wide association studies (GWAS) summary statistics represents a major challenge, for which correction methods have been developed. These include the genomic control (GC) method, which uses the λ-value to correct summary...
Meta-Analysis
Genetic epidemiology. 2025 Sep;49(6):e70016. DOI:10.1002/gepi.70016 2025