Phenotype validation in electronic health records based genetic association studies.

abstract：:In genetic association studies, a single marker is often associated with multiple, correlated phenotypes (e.g., obesity and cardiovascular disease, or nicotine dependence and lung cancer). A pervasive question is then whether that marker exerts independent effects on all phenotypes. In this paper, we address this ques...

journal_title：Genetic epidemiology

authors： Berzuini C,Vansteelandt S,Foco L,Pastorino R,Bernardinelli L

更新日期：2012-09-01 00:00:00

abstract：:We construct data exploration tools for recognizing important covariate patterns associated with a phenotype, with particular focus on searching for association with gene-gene patterns. To this end, we propose a new variable selection procedure that employs latent selection weights and compare it to an alternative for...

journal_title：Genetic epidemiology

authors： Papathomas M,Molitor J,Hoggart C,Hastie D,Richardson S

更新日期：2012-09-01 00:00:00

abstract：:This paper presents a projection regression model (PRM) to assess the relationship between a multivariate phenotype and a set of covariates, such as a genetic marker, age, and gender. In the existing literature, a standard statistical approach to this problem is to fit a multivariate linear model to the multivariate p...

journal_title：Genetic epidemiology

authors： Lin JA,Zhu H,Knickmeyer R,Styner M,Gilmore J,Ibrahim JG

更新日期：2012-09-01 00:00:00

abstract：:This paper describes a general genetic model which encompasses both autosomal and X-linked inheritance as submodels. It allows one to test for X-linked inheritance of a trait by comparing the likelihood of X-linked inheritance to the likelihood of the general genetic model. The general model is formulated as two loci,...

journal_title：Genetic epidemiology

authors： Hasstedt SJ,Skolnick M

更新日期：1984-01-01 00:00:00

abstract：:Increased adiposity has repeatedly been identified as a major risk factor for a variety of chronic diseases. However, the question still remains whether the amount of adipose tissue itself is genetically mediated. To address this question, a segregation analysis, using maximum likelihood techniques as implemented in t...

journal_title：Genetic epidemiology

authors： Comuzzie AG,Blangero J,Mahaney MC,Mitchell BD,Hixson JE,Samollow PB,Stern MP,MacCluer JW

更新日期：1995-01-01 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

authors： Zhan X,Tong X,Zhao N,Maity A,Wu MC,Chen J

更新日期：2017-04-01 00:00:00

abstract：:Smalley et al. [(1992) Genet Epidemiol 9:333-345] found evidence of a mixture of two distributions in memory performance among offspring of patients with dementia of the Alzheimer type (DAT), suggesting that these groups reflect genotypic subgroups of carriers and non-carriers of a putative DAT gene. One prediction of...

journal_title：Genetic epidemiology

authors： Palmer CG,Wolkenstein BH,La Rue A,Swan GE,Smalley SL

更新日期：1994-01-01 00:00:00

abstract：:This study is an investigation of the relationship between apolipoprotein E (apoE) phenotype, arterial disease, and mortality in a group of women (n = 1,751) aged 65 years and older enrolled in the Study of Osteoporotic Fractures. Crude mortality rates were highest among women with the 4-3 and 4-4 phenotypes but age-a...

journal_title：Genetic epidemiology

authors： Vogt MT,Cauley JA,Kuller LH

更新日期：1997-01-01 00:00:00

abstract：:Lander and Kruglyak [1995] gave guidelines for interpreting linkage results based on estimating how often a particular threshold for significance would be exceeded by chance in a single genome scan. What is unknown is how often two or more genome scans would exceed a particular threshold within the same region. We dev...

journal_title：Genetic epidemiology

authors： Badner JA,Goldin LR

更新日期：1999-01-01 00:00:00

abstract：:The potential importance of the joint action of genes, whether modeled with or without a statistical interaction term, has long been recognized. However, identifying such action has been a great challenge, especially when millions of genetic markers are involved. We propose a likelihood ratio-based Mann-Whitney test t...

journal_title：Genetic epidemiology

authors： Lu Q,Wei C,Ye C,Li M,Elston RC

更新日期：2012-09-01 00:00:00

abstract：:As part of Genetic Analysis Workshop 17 (GAW17), our group considered the application of novel and standard approaches to the analysis of genotype-phenotype association in next-generation sequencing data. Our group identified a major issue in the analysis of the GAW17 next-generation sequencing data: type I error and ...

journal_title：Genetic epidemiology

authors： Tintle N,Aschard H,Hu I,Nock N,Wang H,Pugh E

更新日期：2011-01-01 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

authors： Wang J,Liu Q,Pierce BL,Huo D,Olopade OI,Ahsan H,Chen LS

更新日期：2018-07-01 00:00:00

abstract：:We used a case-control design to scan the genome for any associations between genetic markers and disease susceptibility loci using the first two replicates of the Mycenaean population from the GAW11 (Problem 2) data. Using a case-control approach, we constructed a series of 2-by-3 tables for each allele of every mark...

journal_title：Genetic epidemiology

authors： Yang Q,Khoury MJ,Atkinson M,Sun F,Cheng R,Flanders WD

更新日期：1999-01-01 00:00:00

abstract：:Using the Genetic Analysis Workshop 12 simulated data, we contrasted results for association tests in nuclear families and extended pedigrees using single-nucleotide polymorphism (SNP) data, and we compared results for different trait definitions, for outbred and isolate populations, and for SNP and microsatellite dat...

journal_title：Genetic epidemiology

authors： Wilk JB,Volcjak JS,Myers RH,Maher NE,Knowlton BA,Heard-Costa NL,Demissie S,Cupples LA,DeStefano AL

更新日期：2001-01-01 00:00:00

abstract：:The complex etiology of common diseases like cardiovascular disease, diabetes, hypertension, and rheumatoid arthritis has led investigators to focus on the genetics of correlated phenotypes and risk factors. Joint analysis of multiple disease-related phenotypes may reveal genes of pleiotropic effect and increase analy...

journal_title：Genetic epidemiology

authors： Kent JW Jr

更新日期：2009-01-01 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

authors： Zhang Y,Chen Y,Hu T

更新日期：2020-06-01 00:00:00

abstract：:Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a disorder that has an elevated frequency in Saguenay-Lac-St-Jean (SLSJ) and Charlevoix, two geographically isolated regions in the past of northeastern Quebec. The incidence at birth and the carrier rate in SLSJ were estimated at 1/1,932 liveborn i...

journal_title：Genetic epidemiology

authors： De Braekeleer M,Giasson F,Mathieu J,Roy M,Bouchard JP,Morgan K

更新日期：1993-01-01 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

authors： Qiao D,Zigler CM,Cho MH,Silverman EK,Zhou X,Castaldi PJ,Laird NH

更新日期：2020-10-01 00:00:00

abstract：:The 4 allele of apolipoprotein E (APOE) is associated with increased risk of two major causes of death in low-mortality populations: ischemic heart disease and Alzheimer's disease. It is less common among centenarians than at younger ages. Therefore, it is likely that it is associated with excess risk of death. This a...

journal_title：Genetic epidemiology

authors： Ewbank DC

更新日期：2002-02-01 00:00:00

abstract：:We used variance-components analysis to investigate the additive genetic effects regulating some of the phenotypes included in the GAW11 data set. Variance-components models were fitted using Gibbs sampling methods in BUGS v 0.6. Linkage analyses for both multivariate normal (MvN) traits and right censored survival ti...

journal_title：Genetic epidemiology

authors： Palmer LJ,Tiller KJ,Burton PR

更新日期：1999-01-01 00:00:00

abstract：:Monte Carlo methods for linkage and segregation analysis are applied to the HGAR1 pedigree. To address these data, the methods are extended in several ways. The results are compared with those provided by PAP. ...

journal_title：Genetic epidemiology

authors： Thompson EA,Lin S,Olshen AB,Wijsman EM

更新日期：1993-01-01 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

authors： Ray D,Basu S

更新日期：2017-07-01 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

authors： Campbell DD,Li Y,Sham PC

更新日期：2018-03-01 00:00:00

abstract：:An extension of the traditional regression of offspring on midparent (ROMP) method was used to estimate the heritability of the trait, test for marker association, and estimate the heritability attributable to a marker locus. The fifty replicates of the Genetic Analysis Workshop (GAW) 12 simulated general population d...

journal_title：Genetic epidemiology

authors： Pugh EW,Papanicolaou GJ,Justice CM,Roy-Gagnon MH,Sorant AJ,Kingman A,Wilson AF

更新日期：2001-01-01 00:00:00

abstract：:Population stratification (PS) can lead to an inflated rate of false-positive findings in genome-wide association studies (GWAS). The commonly used approach of adjustment for a fixed number of principal components (PCs) could have a deleterious impact on power when selected PCs are equally distributed in cases and con...

journal_title：Genetic epidemiology

authors： Li Q,Wacholder S,Hunter DJ,Hoover RN,Chanock S,Thomas G,Yu K

更新日期：2009-07-01 00:00:00

abstract：:Our group studied the effects of genotyping errors, pedigree errors, and missing data on a wide range of techniques, with a focus on the role of single-nucleotide polymorphisms (SNPs). Half of our group used simulated data, and half of our group used data from the Collaborative Study on the Genetics of Alcoholism (COG...

journal_title：Genetic epidemiology

authors： Hinrichs AL,Suarez BK

更新日期：2005-01-01 00:00:00

abstract：:A highly significant familial aggregation of eosinophil levels (X2(3) = 38.00) was detected in a sample from three Brazilian populations with a high incidence of helminthic parasitism. The data were unable to resolve genetic or common environment causation due to the lack of environmental concomitant variables. Result...

journal_title：Genetic epidemiology

authors： Moro-Furlani AM,Krieger H

更新日期：1992-01-01 00:00:00

abstract：:The research presented in group 11 of the Genetic Analysis Workshop 15 (GAW15) falls into two major themes: Model selection approaches for gene mapping (both Bayesian and Frequentist); and other Bayesian methods. These methods either allow relaxation of some of the common assumptions, such as mode of inheritance, for ...

journal_title：Genetic epidemiology

authors： Swartz MD,Thomas DC,Daw EW,Albers K,Charlesworth JC,Dyer TC,Fridley BL,Govil M,Kraft P,Kwon S,Logue MW,Oh C,Pique-Regi R,Saba L,Schumacher FR,Uh HW

更新日期：2007-01-01 00:00:00

abstract：:For many clinical studies in cancer, germline DNA is prospectively collected for the purpose of discovering or validating single-nucleotide polymorphisms (SNPs) associated with clinical outcomes. The primary clinical endpoint for many of these studies are time-to-event outcomes such as time of death or disease progres...

journal_title：Genetic epidemiology

authors： Owzar K,Li Z,Cox N,Jung SH

更新日期：2012-09-01 00:00:00

abstract：:Genome-wide association studies of discrete traits generally use simple methods of analysis based on chi(2) tests for contingency tables or logistic regression, at least for an initial scan of the entire genome. Nevertheless, more power might be obtained by using various methods that analyze multiple markers in combin...

journal_title：Genetic epidemiology

authors： Thomas DC

更新日期：2009-01-01 00:00:00