Shared genetic risk between major orofacial cleft phenotypes in an African population [0.03%]
非洲人群中主要口腔面部裂隙表型之间的共同遗传风险因素
Azeez Alade,Tabitha Peter,Tamara Busch et al.
Azeez Alade et al.
Nonsyndromic orofacial clefts (NSOFCs) represent a large proportion (70%-80%) of all OFCs. They can be broadly categorized into nonsyndromic cleft lip with or without cleft palate (NSCL/P) and nonsyndromic cleft palate only (NSCPO). Althoug...
Hierarchical joint analysis of marginal summary statistics-Part I: Multipopulation fine mapping and credible set construction [0.03%]
分层联合分析边际汇总统计量-I：多人群精细映射和置信集构建
Jiayi Shen,Lai Jiang,Kan Wang et al.
Jiayi Shen et al.
Recent advancement in genome-wide association studies (GWAS) comes from not only increasingly larger sample sizes but also the shift in focus towards underrepresented populations. Multipopulation GWAS increase power to detect novel risk var...
Meiling Liu,Yu-Ru Su,Yang Liu et al.
Meiling Liu et al.
Genetic factors play a fundamental role in disease development. Studying the genetic association with clinical outcomes is critical for understanding disease biology and devising novel treatment targets. However, the frequencies of genetic ...
OSCAA: A two-dimensional Gaussian mixture model for copy number variation association analysis [0.03%]
基于二维高斯混合模型的拷贝数变异关联分析方法研究
Xuanxuan Yu,Xizhi Luo,Guoshuai Cai et al.
Xuanxuan Yu et al.
Copy number variants (CNVs) are prevalent in the human genome and are found to have a profound effect on genomic organization and human diseases. Discovering disease-associated CNVs is critical for understanding the pathogenesis of diseases...
Breast and bowel cancers diagnosed in people 'too young to have cancer': A blueprint for research using family and twin studies [0.03%]
年轻人中诊断出乳腺癌和结肠癌：使用家庭研究和双胞胎研究进行研究的蓝图
John L Hopper,Shuai Li,Robert J MacInnis et al.
John L Hopper et al.
Young breast and bowel cancers (e.g., those diagnosed before age 40 or 50 years) have far greater morbidity and mortality in terms of years of life lost, and are increasing in incidence, but have been less studied. For breast and bowel canc...
Causation and familial confounding as explanations for the associations of polygenic risk scores with breast cancer: Evidence from innovative ICE FALCON and ICE CRISTAL analyses [0.03%]
多基因风险评分与乳腺癌关联的因果关系及家庭混杂因素：来自创新ICE FALCON和ICE CRISTAL分析的证据
Shuai Li,Gillian S Dite,Robert J MacInnis et al.
Shuai Li et al.
A polygenic risk score (PRS) combines the associations of multiple genetic variants that could be due to direct causal effects, indirect genetic effects, or other sources of familial confounding. We have developed new approaches to assess e...
Using parent-offspring pairs and trios to estimate indirect genetic effects in education [0.03%]
利用亲子对和亲子三口之家来估计教育中的间接遗传效应
Victória Trindade Pons,Annique Claringbould,Priscilla Kamphuis et al.
Victória Trindade Pons et al.
We investigated indirect genetic effects (IGEs), also known as genetic nurture, in education with a novel approach that uses phased data to include parent-offspring pairs in the transmitted/nontransmitted study design. This method increases...
Hyun Jung Koo,Wei Pan
Hyun Jung Koo
Genome-wide association studies (GWAS) have provided an abundance of information about the genetic variants and their loci that are associated to complex traits and diseases. However, due to linkage disequilibrium (LD) and noncoding regions...
Unveiling challenges in Mendelian randomization for gene-environment interaction [0.03%]
揭示孟德尔随机化在基因-环境相互作用中的挑战
Malka Gorfine,Conghui Qu,Ulrike Peters et al.
Malka Gorfine et al.
Gene-environment (GxE) interactions play a crucial role in understanding the complex etiology of various traits, but assessing them using observational data can be challenging due to unmeasured confounders for lifestyle and environmental ri...
Robust use of phenotypic heterogeneity at drug target genes for mechanistic insights: Application of cis-multivariable Mendelian randomization to GLP1R gene region [0.03%]
利用药物靶基因的表型异质性的稳健方法以获得机制见解：应用顺式-多变量孟德尔随机化到GLP1R基因区域
Ashish Patel,Dipender Gill,Dmitry Shungin et al.
Ashish Patel et al.
Phenotypic heterogeneity at genomic loci encoding drug targets can be exploited by multivariable Mendelian randomization to provide insight into the pathways by which pharmacological interventions may affect disease risk. However, statistic...