Chin Yang Shapland,Apostolos Gkatzionis,Gibran Hemani et al.
Chin Yang Shapland et al.
Observational studies are rarely representative of their target population because there are known and unknown factors that affect an individual's choice to participate (the selection mechanism). Selection can cause bias in a given analysis...
Polygenic hazard score models for the prediction of Alzheimer's free survival using the lasso for Cox's proportional hazards model [0.03%]
基于Cox比例风险模型中套索方法的多基因危害评分在预测无阿尔茨海默病生存率中的作用
Georg Hahn,Dmitry Prokopenko,Julian Hecker et al.
Georg Hahn et al.
The prediction of the susceptibility of an individual to a certain disease is an important and timely research area. An established technique is to estimate the risk of an individual with the help of an integrated risk model, that is, a pol...
Proteome-wide association study using cis and trans variants and applied to blood cell and lipid-related traits in the Women's Health Initiative study [0.03%]
利用顺式和反式变异进行蛋白质组范围的关联研究，并将其应用于Women's Health Initiative研究中的血液细胞和脂质相关性状
Brian D Chen,Chanhwa Lee,Amanda L Tapia et al.
Brian D Chen et al.
In most Proteome-Wide Association Studies (PWAS), variants near the protein-coding gene (±1 Mb), also known as cis single nucleotide polymorphisms (SNPs), are used to predict protein levels, which are then tested for association with pheno...
Statistics to prioritize rare variants in family-based sequencing studies with disease subtypes [0.03%]
统计方法在基于家系的疾病亚型测序研究中优先选择稀有变异体
Christina Nieuwoudt,Fabiha Binte Farooq,Angela Brooks-Wilson et al.
Christina Nieuwoudt et al.
Family-based sequencing studies are increasingly used to find rare genetic variants of high risk for disease traits with familial clustering. In some studies, families with multiple disease subtypes are collected and the exomes of affected ...
Hierarchical joint analysis of marginal summary statistics-Part II: High-dimensional instrumental analysis of omics data [0.03%]
分层联合分析边际汇总统计量 第二部分：高维仪器分析组学数据
Lai Jiang,Jiayi Shen,Burcu F Darst et al.
Lai Jiang et al.
Instrumental variable (IV) analysis has been widely applied in epidemiology to infer causal relationships using observational data. Genetic variants can also be viewed as valid IVs in Mendelian randomization and transcriptome-wide associati...
Interpreting disease genome-wide association studies and polygenetic risk scores given eligibility and study design considerations [0.03%]
基于纳入标准和研究设计考量的疾病全基因组关联研究及多基因风险评分解读
Catherine Mary Schooling,Mary Beth Terry
Catherine Mary Schooling
Genome-wide association studies (GWAS) have been helpful in identifying genetic variants predicting cancer risk and providing new insights into cancer biology. Increasing use of genetically informed care, as well as genetically informed pre...
Identifying genes associated with disease outcomes using joint sparse canonical correlation analysis-An application in renal clear cell carcinoma [0.03%]
基于联合稀疏典型相关分析的疾病结局关联基因识别及其在肾透明细胞癌中的应用
Diptavo Dutta,Ananda Sen,Jaya M Satagopan
Diptavo Dutta
Somatic changes like copy number aberrations (CNAs) and epigenetic alterations like methylation have pivotal effects on disease outcomes and prognosis in cancer, by regulating gene expressions, that drive critical biological processes. To i...
Identifying somatic fingerprints of cancers defined by germline and environmental risk factors [0.03%]
由遗传和环境风险因素定义的癌症的体细胞特征识别
Saptarshi Chakraborty,Zoe Guan,Caroline E Kostrzewa et al.
Saptarshi Chakraborty et al.
Numerous studies over the past generation have identified germline variants that increase specific cancer risks. Simultaneously, a revolution in sequencing technology has permitted high-throughput annotations of somatic genomes characterizi...
Meta-analysis of breast cancer risk for individuals with PALB2 pathogenic variants [0.03%]
PALB2致病性变异个体的乳腺癌风险meta分析
Thanthirige L M Ruberu,Danielle Braun,Giovanni Parmigiani et al.
Thanthirige L M Ruberu et al.
Multigene panel testing now allows efficient testing of many cancer susceptibility genes leading to a larger number of mutation carriers being identified. They need to be counseled about their cancer risk conferred by the specific gene muta...
A novel application of data-consistent inversion to overcome spurious inference in genome-wide association studies [0.03%]
一种新颖的数据一致逆推方法在全基因组关联研究中的应用以克服伪推断问题
Negar Janani,Kendra A Young,Greg Kinney et al.
Negar Janani et al.
The genome-wide association studies (GWAS) typically use linear or logistic regression models to identify associations between phenotypes (traits) and genotypes (genetic variants) of interest. However, the use of regression with the additiv...