解剖学和形态学
麻醉学
听力与言语-语言病理学
行为科学
心脏和心血管系统
细胞和组织工程学
临床神经病学
危重症监护医学
牙科,口腔外科和医学
皮肤病学
急诊医学
内分泌学和新陈代谢
肠胃学和肝脏学
老人病学和老年医学
卫生保健科学和服务
血液学
免疫学
传染病
综合和补充性医学
医学伦理学
医学信息学
医学实验室技术
医学,全科和内科
医学,法律
医学,研究和试验
神经系统科学
护理
营养学和饮食学
产科医学和妇科医学
肿瘤学
眼科学
整形外科学
耳鼻喉科学
病理学
儿科学
周围血管疾病
药理学和药剂学
生理学
基本医疗保健
精神病学
公共、环境和职业卫生
放射学,核医学和医学成像
康复学
生殖生物学
呼吸系统
风湿病学
运动科学
外科学
毒理学
热带医学
泌尿学和肾脏学
病毒学
老年医学
健康政策和服务
心理学,临床
abstract::Clinical trial results have recently demonstrated that inhibiting inflammation by targeting the interleukin-1β pathway can offer a significant reduction in lung cancer incidence and mortality, highlighting a pressing and unmet need to understand the benefits of inflammation-focused lung cancer therapies at the genetic...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.22358
更新日期:2021-02-01 00:00:00
abstract::To date, thousands of genetic variants to be associated with numerous human traits and diseases have been identified by genome-wide association studies (GWASs). The GWASs focus on testing the association between single trait and genetic variants. However, the analysis of multiple traits and single nucleotide polymorph...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.22330
更新日期:2020-10-01 00:00:00
abstract::Noncoding DNA contains gene regulatory elements that alter gene expression, and the function of these elements can be modified by genetic variation. Massively parallel reporter assays (MPRA) enable high-throughput identification and characterization of functional genetic variants, but the statistical methods to identi...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.22337
更新日期:2020-10-01 00:00:00
abstract::Genes, including those with transgenerational effects, work in concert with behavioral, environmental, and social factors via complex biological networks to determine human health. Understanding complex relationships between causal factors underlying human health is an essential step towards deciphering biological mec...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.22363
更新日期:2020-09-30 00:00:00
abstract::A key aim for current genome-wide association studies (GWAS) is to interrogate the full spectrum of genetic variation underlying human traits, including rare variants, across populations. Deep whole-genome sequencing is the gold standard to fully capture genetic variation, but remains prohibitively expensive for large...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.22326
更新日期:2020-09-01 00:00:00
abstract::Previous transcriptome-wide association studies (TWAS) have identified breast cancer risk genes by integrating data from expression quantitative loci and genome-wide association studies (GWAS), but analyses of breast cancer subtype-specific associations have been limited. In this study, we conducted a TWAS using gene ...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.22288
更新日期:2020-07-01 00:00:00
abstract::Understanding the genetic background of complex diseases and disorders plays an essential role in the promising precision medicine. The evaluation of candidate genes, however, requires time-consuming and expensive experiments given a large number of possibilities. Thus, computational methods have seen increasing appli...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.22282
更新日期:2020-06-01 00:00:00
abstract::Logistic regression is the primary analysis tool for binary traits in genome-wide association studies (GWAS). Multinomial regression extends logistic regression to multiple categories. However, many phenotypes more naturally take ordered, discrete values. Examples include (a) subtypes defined from multiple sources of ...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.22276
更新日期:2020-04-01 00:00:00
abstract::Emerging evidence suggests that a genetic variant can affect multiple phenotypes, especially in complex human diseases. Therefore, joint analysis of multiple phenotypes may offer new insights into disease etiology. Recently, many statistical methods have been developed for joint analysis of multiple phenotypes, includ...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.22263
更新日期:2020-01-01 00:00:00
abstract::The heritability of most complex traits is driven by variants throughout the genome. Consequently, polygenic risk scores, which combine information on multiple variants genome-wide, have demonstrated improved accuracy in genetic risk prediction. We present a new two-step approach to constructing genome-wide polygenic ...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.22245
更新日期:2019-10-01 00:00:00
abstract::Nontraditional glycemic biomarkers, including fructosamine, glycated albumin, and 1,5-anhydroglucitol (1,5-AG) are potential alternatives or complement to traditional measures of hyperglycemia. Genetic variants are associated with these biomarkers, but the heritability, or extent to which genetics control their variat...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.22243
更新日期:2019-10-01 00:00:00
abstract::Genome-wide association studies (GWAS) are a powerful tool for understanding the genetic basis of diseases and traits, but most studies have been conducted in isolation, with a focus on either a single or a set of closely related phenotypes. We describe MetABF, a simple Bayesian framework for performing integrative me...
journal_title:Genetic epidemiology
pub_type: 杂志文章,meta分析
doi:10.1002/gepi.22202
更新日期:2019-07-01 00:00:00
abstract::Given the rapid pace with which genomics and other -omics disciplines are evolving, it is sometimes necessary to shift down a gear to consider more general scientific questions. In this line, in my presidential address I formulate six questions for genetic epidemiologists to ponder on. These cover the areas of reprodu...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.22191
更新日期:2019-04-01 00:00:00
abstract::Genetic studies are continuing to generate volumes and variety of data that can be used to examine the genetic effects. Often the effect of a genetic variant varies by nongenetic measures, what is traditionally defined as gene-environment interaction (G×E). If the G×E term is neglected, estimates of the main effects c...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.22154
更新日期:2018-12-01 00:00:00
abstract::Power estimations are important for optimizing genotype-phenotype association study designs. However, existing frameworks are designed for common disorders, and thus ill-suited for the inherent challenges of studies for low-prevalence conditions such as rare diseases and infrequent adverse drug reactions. These challe...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.22129
更新日期:2018-07-01 00:00:00
abstract::There is a growing recognition that gene-environment interaction (G × E) plays a pivotal role in the development and progression of complex diseases. Despite a wealth of genetic data on various complex diseases/traits generated from association and sequencing studies, detecting G × E via genome-wide analysis remains c...
journal_title:Genetic epidemiology
pub_type: 杂志文章,meta分析
doi:10.1002/gepi.22115
更新日期:2018-07-01 00:00:00
abstract::Polygenic risk scores (PRSs) are a method to summarize the additive trait variance captured by a set of SNPs, and can increase the power of set-based analyses by leveraging public genome-wide association study (GWAS) datasets. PRS aims to assess the genetic liability to some phenotype on the basis of polygenic risk fo...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.22117
更新日期:2018-06-01 00:00:00
abstract::Construction of multifactorial disease models from epidemiological findings and their application to disease pedigrees for risk prediction is nontrivial for all but the simplest of cases. Multifactorial Disease Risk Calculator is a web tool facilitating this. It provides a user-friendly interface, extending a reported...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.22101
更新日期:2018-03-01 00:00:00
abstract::Epigenome-wide association studies (EWAS) are designed to characterise population-level epigenetic differences across the genome and link them to disease. Most commonly, they assess DNA-methylation status at cytosine-guanine dinucleotide (CpG) sites, using platforms such as the Illumina 450k array that profile a subse...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.22086
更新日期:2018-02-01 00:00:00
abstract::In the analysis of gene expression data, dimension reduction techniques have been extensively adopted. The most popular one is perhaps the PCA (principal component analysis). To generate more reliable and more interpretable results, the SPCA (sparse PCA) technique has been developed. With the "small sample size, high ...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.22089
更新日期:2017-12-01 00:00:00
abstract::The linkage between electronic health records (EHRs) and genotype data makes it plausible to study the genetic susceptibility of a wide range of disease phenotypes. Despite that EHR-derived phenotype data are subjected to misclassification, it has been shown useful for discovering susceptible genes, particularly in th...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.22080
更新日期:2017-12-01 00:00:00
abstract::Methods for genetic risk prediction have been widely investigated in recent years. However, most available training data involves European samples, and it is currently unclear how to accurately predict disease risk in other populations. Previous studies have used either training data from European samples in large sam...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.22083
更新日期:2017-12-01 00:00:00
abstract::Over the past few years, an increasing number of studies have identified rare variants that contribute to trait heritability. Due to the extreme rarity of some individual variants, gene-based association tests have been proposed to aggregate the genetic variants within a gene, pathway, or specific genomic region as op...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.22081
更新日期:2017-12-01 00:00:00
abstract::Increasing evidence has shown that genes may cause prenatal, neonatal, and pediatric diseases depending on their parental origins. Statistical models that incorporate parent-of-origin effects (POEs) can improve the power of detecting disease-associated genes and help explain the missing heritability of diseases. In ma...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.22060
更新日期:2017-11-01 00:00:00
abstract::Due to the drop in sequencing cost, the number of sequenced genomes is increasing rapidly. To improve power of rare-variant tests, these sequenced samples could be used as external control samples in addition to control samples from the study itself. However, when using external controls, possible batch effects due to...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.22057
更新日期:2017-11-01 00:00:00
abstract::Testing for association between two random vectors is a common and important task in many fields, however, existing tests, such as Escoufier's RV test, are suitable only for low-dimensional data, not for high-dimensional data. In moderate to high dimensions, it is necessary to consider sparse signals, which are often ...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.22059
更新日期:2017-11-01 00:00:00
abstract::Family-based designs enriched with affected subjects and disease associated variants can increase statistical power for identifying functional rare variants. However, few rare variant analysis approaches are available for time-to-event traits in family designs and none of them applicable to the X chromosome. We develo...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.22054
更新日期:2017-09-01 00:00:00
abstract::In the past decade, many genome-wide association studies (GWASs) have been conducted to explore association of single nucleotide polymorphisms (SNPs) with complex diseases using a case-control design. These GWASs not only collect information on the disease status (primary phenotype, D) and the SNPs (genotypes, X), but...
journal_title:Genetic epidemiology
pub_type: 杂志文章,随机对照试验
doi:10.1002/gepi.22045
更新日期:2017-07-01 00:00:00
abstract::Identifying gene-environment (G-E) interactions can contribute to a better understanding of disease etiology, which may help researchers develop disease prevention strategies and interventions. One big criticism of studying G-E interaction is the lack of power due to sample size. Studies often restrict the interaction...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.22043
更新日期:2017-07-01 00:00:00
abstract::For the association analysis of whole-genome sequencing (WGS) studies, we propose an efficient and fast spatial-clustering algorithm. Compared to existing analysis approaches for WGS data, that define the tested regions either by sliding or consecutive windows of fixed sizes along variants, a meaningful grouping of ne...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.22040
更新日期:2017-05-01 00:00:00
abstract::High-throughput sequencing technologies have enabled large-scale studies of the role of the human microbiome in health conditions and diseases. Microbial community level association test, as a critical step to establish the connection between overall microbiome composition and an outcome of interest, has now been rout...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.22030
更新日期:2017-04-01 00:00:00
abstract::Imputation is widely used for obtaining information about rare variants. However, one issue concerning imputation is the low accuracy of imputed rare variants as the inaccurate imputed rare variants may distort the results of region-based association tests. Therefore, we developed a pre-collapsing imputation method (P...
journal_title:Genetic epidemiology
pub_type: 杂志文章,多中心研究
doi:10.1002/gepi.22020
更新日期:2017-01-01 00:00:00
abstract::We develop a Bayesian multi-SNP Markov chain Monte Carlo approach that allows published functional significance scores to objectively inform single nucleotide polymorphism (SNP) prior effect sizes in expression quantitative trait locus (eQTL) studies. We developed the Normal Gamma prior to allow the inclusion of funct...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.21961
更新日期:2016-05-01 00:00:00
abstract::Genome-wide association studies are proven tools for finding disease genes, but it is often necessary to combine many cohorts into a meta-analysis to detect statistically significant genetic effects. Often the component studies are performed by different investigators on different populations, using different chips wi...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.21949
更新日期:2016-02-01 00:00:00
abstract::Several methods have been proposed to increase power in rare variant association testing by aggregating information from individual rare variants (MAF < 0.005). However, how to best combine rare variants across multiple ethnicities and the relative performance of designs using different ethnic sampling fractions remai...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.21939
更新日期:2016-01-01 00:00:00
abstract::The etiology of complex traits likely involves the effects of genetic and environmental factors, along with complicated interaction effects between them. Consequently, there has been interest in applying genetic association tests of complex traits that account for potential modification of the genetic effect in the pr...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.21901
更新日期:2015-07-01 00:00:00
abstract::The recent successes of genome-wide association studies (GWAS) have renewed interest in genome environment wide interaction studies (GEWIS) to discover genetic factors that modulate penetrance of environmental exposures to human diseases. Indeed, gene-environment interactions (G × E), which have not been emphasized in...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.21890
更新日期:2015-07-01 00:00:00
abstract::Next-generation sequencing (NGS) has led to the study of rare genetic variants, which possibly explain the missing heritability for complex diseases. Most existing methods for rare variant (RV) association detection do not account for the common presence of sequencing errors in NGS data. The errors can largely affect ...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.21871
更新日期:2015-02-01 00:00:00
abstract::The aim of this paper is to develop a functional-mixed effects modeling (FMEM) framework for the joint analysis of high-dimensional imaging data in a large number of locations (called voxels) of a three-dimensional volume with a set of genetic markers and clinical covariates. Our FMEM is extremely useful for efficient...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.21854
更新日期:2014-12-01 00:00:00
abstract::In the last two decades, complex traits have become the main focus of genetic studies. The hypothesis that both rare and common variants are associated with complex traits is increasingly being discussed. Family-based association studies using relatively large pedigrees are suitable for both rare and common variant id...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.21844
更新日期:2014-11-01 00:00:00