Identity-By-Descent Mapping Using Multi-Individual IBD With Genome-Wide Multiple Testing Adjustment [0.03%]
利用全基因组多个体IBD进行多位置检验的系谱图绘制研究
Ruoyi Cai,Sharon R Browning
Ruoyi Cai
We present an identity-by-descent mapping approach to test the association between genome-wide loci and complex traits. Our method evaluates whether levels of genetic similarities at specific genomic locations, captured by local relatedness...
Exploring Similarities and Differences Between Methods That Exploit Patterns of Local Genetic Correlation to Identify Shared Causal Loci Through Application to Genome-Wide Association Studies of Multiple Long Term Conditions [0.03%]
通过应用于多种长期疾病全基因组关联研究探索利用本地遗传相关模式识别共享因果位点的方法之间的异同点
Rebecca Darlay,Rupal L Shah,Richard M Dodds et al.
Rebecca Darlay et al.
Genetic correlation analysis can provide useful insight into the shared genetic basis between traits or conditions of interest. However, most genome-wide analyses only inform about the degree of global (overall) genetic similarity and do no...
A Robust Association Test Leveraging Unknown Genetic Interactions: Application to Cystic Fibrosis Lung Disease [0.03%]
一种稳健的关联检测方法利用未知的基因互作：囊性纤维化肺病的应用
Sangook Kim,Yu-Chung Lin,Lisa J Strug
Sangook Kim
For complex traits such as lung disease in Cystic Fibrosis (CF), Gene x Gene or Gene x Environment interactions can impact disease severity but these remain largely unknown. Unaccounted-for genetic interactions introduce a distributional sh...
Uncovering Ethnicity-Specific Recessive Loci for Alzheimer's Disease in 89 Dominican Families Using Family-Based WGS Analysis [0.03%]
利用基于家系的全外显子组测序分析在89个多米尼加家庭中发现阿尔茨海默病的特定族裔隐性基因座
Sanghun Lee,Julian Hecker,Badri N Vardarajan et al.
Sanghun Lee et al.
In a sample of 89 Dominican families from the National Institute on Aging's Alzheimer's Disease Sequencing Project (ADSP), where at least one family member had a confirmed Alzheimer's disease (AD) diagnosis, we conducted an exploratory rece...
Genome-Wide Association Analyses in Family Triads and Dyads Following Assisted Reproductive Technology [0.03%]
辅助生殖技术后家庭三联体和双联体的全基因组关联分析
Siri N Skodvin,Håkon K Gjessing,Astanand Jugessur et al.
Siri N Skodvin et al.
Genetic selection occurs at different stages before a successful birth. The genetic makeup of a couple may influence the likelihood of needing assisted reproductive technology (ART) to achieve conception. However, frequent early fetal losse...
Genome-Wide Association Studies of Down Syndrome Associated Congenital Heart Defects Suggests a Genetically Heterogeneous Risk for CHD in DS [0.03%]
关于唐氏综合症相关先天性心脏病的全基因组关联研究提示了DS相关CHD的遗传异质性风险
Elizabeth R Feldman,Yunqi Li,David J Cutler et al.
Elizabeth R Feldman et al.
Congenital heart defects (CHDs) are the most common structural birth defect and are present in 40%-50% of children born with Down syndrome (DS). To characterize the genetic architecture of DS-associated CHD, we sequenced genomes of a multie...
Three Loci Affecting Variance of Body Mass Index in African Americans and Sub-Saharan Africans [0.03%]
影响非洲人和撒哈拉以南非洲人体质指数变异的三个位点
Daniel Shriner,Amy R Bentley,Ayo P Doumatey et al.
Daniel Shriner et al.
Conventional genome-wide association studies (GWAS) are designed to assess the effect of a genetic locus on phenotypic mean by genotype. Such loci explain a proportion of phenotypic variance known as narrow-sense heritability. In contrast, ...
Uncertainty Quantification in Epigenetic Clocks via Conformalized Quantile Regression [0.03%]
通过符合化分位数回归在表观遗传钟中的不确定性量化
Yanping Li,Jaclyn M Goodrich,Karen E Peterson et al.
Yanping Li et al.
DNA methylation (DNAm) is a chemical modification of DNA that can be influenced by various factors, including age, the environment, and lifestyle. An epigenetic clock is a predictive tool that measures biological age based on DNAm levels. I...
Yunsung Lee,Miriam Gjerdevik,Astanand Jugessur et al.
Yunsung Lee et al.
Childhood asthma is more common among children whose mothers have asthma than among those whose fathers have asthma. The reasons for this are unknown, and we hypothesize that genomic imprinting may partly explain this observation. Our aim i...
Dimension Reduction Using Local Principal Components for Regression-Based Multi-SNP Analysis in 1000 Genomes and the Canadian Longitudinal Study on Aging (CLSA) [0.03%]
使用局部主成分降维进行回归基础多SNP分析在千人基因组和加拿大老龄化纵向研究(CLSA)中的应用
Fatemeh Yavartanoo,Myriam Brossard,Shelley B Bull et al.
Fatemeh Yavartanoo et al.
For genetic association analysis based on multiple SNP regression of genotypes obtained by dense DNA sequencing or array data imputation, multi-collinearity can be a severe issue causing failure to fit the regression model. In this study, w...