Combining family- and population-based imputation data for association analysis of rare and common variants in large pedigrees.

abstract：:The univariate analysis of categorical twin data can be performed using either structural equation modeling (SEM) or logistic regression. This paper presents a comparison between these two methods using a simulation study. Dichotomous and ordinal (three category) twin data are simulated under two different sample size...

journal_title：Genetic epidemiology

authors： Ramakrishnan V,Meyer JM,Goldberg J,Henderson WG

更新日期：1996-01-01 00:00:00

abstract：:Sequencing studies using whole-genome or exome scans are still more expensive than genome-wide association studies on a per-subject basis. As a result, only a subset of subjects from a larger study will be selected for sequencing. To perform an agnostic investigation of the entire genome, subjects may be selected that...

journal_title：Genetic epidemiology

authors： Edwards TL,Li C

更新日期：2012-07-01 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：:The large number of tests performed in analyzing data from genome-wide association studies has a large impact on the power of detecting risk variants, and analytic strategies specifying the optimal set of hypotheses to be tested are necessary. We propose a genome-wide strategy that is based on one degree of freedom te...

journal_title：Genetic epidemiology

authors： Nicolae DL

更新日期：2006-12-01 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：: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：:Multilocus linkage disequilibrium (LD) tests that consider inter-marker (LD) are more powerful than single-locus tests when disease etiology is contributed simultaneously by several linked and correlated loci. However, inclusion of redundant non-informative markers may result in reduced testing power and/or inflated f...

journal_title：Genetic epidemiology

authors： Yang HC,Lin CY,Fann CS

更新日期：2006-09-01 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

authors： Broadaway KA,Duncan R,Conneely KN,Almli LM,Bradley B,Ressler KJ,Epstein MP

更新日期：2015-07-01 00:00:00

abstract：:To evaluate the risk of a disease associated with the joint effects of genetic susceptibility and environmental exposures, epidemiologic researchers often test for non-multiplicative gene-environment effects from case-control studies. In this article, we present a comparative study of four alternative tests for intera...

journal_title：Genetic epidemiology

authors： Mukherjee B,Ahn J,Gruber SB,Rennert G,Moreno V,Chatterjee N

更新日期：2008-11-01 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

authors： Yu X,Chen G,Feng R

更新日期：2017-11-01 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

authors： He L,Pitkäniemi J,Sarin AP,Salomaa V,Sillanpää MJ,Ripatti S

更新日期：2015-02-01 00:00:00

abstract：:Genome-wide association studies (GWAS) have identified many single nucleotide polymorphisms (SNPs) associated with complex traits. However, the genetic heritability of most of these traits remains unexplained. To help guide future studies, we address the crucial question of whether future GWAS can detect new SNP assoc...

journal_title：Genetic epidemiology

authors： Lindquist KJ,Jorgenson E,Hoffmann TJ,Witte JS

更新日期：2013-05-01 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

authors： Liu M,Fan X,Fang K,Zhang Q,Ma S

更新日期：2017-12-01 00:00:00

abstract：:When testing for genetic effects, failure to account for a gene-environment interaction can mask the true association effects of a genetic marker with disease. Family-based association tests are popular because they are completely robust to population substructure and model misspecification. However, when testing for ...

journal_title：Genetic epidemiology

authors： Hoffmann TJ,Lange C,Vansteelandt S,Laird NM

更新日期：2009-12-01 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

authors： Bu D,Yang Q,Meng Z,Zhang S,Li Q

更新日期：2020-10-01 00:00:00

abstract：:We investigated the utility of two approaches for exploiting pleiotropy to search for genes influencing related traits. To do this we first assessed the genetic correlations among a set of five closely related quantitative traits (Q1, Q2, Q3, Q4, Q5). We then used the genetic correlations among these five traits both ...

journal_title：Genetic epidemiology

authors： Comuzzie AG,Mahaney MC,Almasy L,Dyer TD,Blangero J

更新日期：1997-01-01 00:00:00

abstract：:A major locus that determines levels of apolipoprotein B (apoB) was revealed by likelihood analysis on 331 members of 36 pedigrees. The major locus explained 43.2% of the observed variance, with the remainder attributed to random environmental factors. Estimated mean apoB levels (mg/dl) were 110.5 +/- 2.5, 141.9 +/- 4...

journal_title：Genetic epidemiology

authors： Hasstedt SJ,Wu L,Williams RR

更新日期：1987-01-01 00:00:00

abstract：:The availability of high-density haplotype data has motivated several fine-scale linkage disequilibrium mapping methods for locating disease-causing mutations. These methods identify loci around which haplotypes of case chromosomes exhibit greater similarity than do those of control chromosomes. A difficulty arising i...

journal_title：Genetic epidemiology

authors： Yu K,Martin RB,Whittemore AS

更新日期：2004-11-01 00:00:00

abstract：:The results of classical segregation analysis on 159 families with polycystic kidney disease (PKD) are presented. It had been previously estimated that about 95% of autosomal dominant PKD (ADPKD) families have PKD1, the gene localized to chromosome 16p. The main purpose of the study was to determine if PKD shows any s...

journal_title：Genetic epidemiology

authors： Dobin A,Kimberling WJ,Pettinger W,Bailey-Wilson JE,Shugart YY,Gabow P

更新日期：1993-01-01 00:00:00

abstract：:We compare four strategies for finding the settings of genetic parameters that maximize the lod scores reported in GENEHUNTER 1.2. The four strategies are iterated complete factorial designs, iterated orthogonal Latin hypercubes, evolutionary operation, and numerical optimization. The genetic parameters that are set a...

journal_title：Genetic epidemiology

authors： Chen CH,Finch SJ,Mendell NR,Gordon D

更新日期：1999-01-01 00:00:00

abstract：:Jewish women have been reported to have a higher risk for familial breast cancer than non-Jewish women and to be more likely to carry mutations in breast cancer genes such as BRCA1. Because BRCA1 mutations also increase women's risk for ovarian cancer, we asked whether Jewish women are at higher risk for familial ovar...

journal_title：Genetic epidemiology

authors： Steinberg KK,Pernarelli JM,Marcus M,Khoury MJ,Schildkraut JM,Marchbanks PA

更新日期：1998-01-01 00:00:00

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：:alpha 1-antitrypsin (alpha 1 AT) deficiency is variably associated with the development of pulmonary emphysema. To gain insight into the process which begins the Z point mutation at the Protease Inhibitor (Pi) locus and results in the variable development of emphysema, three quantitative phenotypes, including total al...

journal_title：Genetic epidemiology

authors： Silverman EK,Province MA,Campbell EJ,Pierce JA,Rao DC

更新日期：1990-01-01 00:00:00

abstract：:The prevalence rate for autoimmune thyroid disease (ATD) is about 30 times higher in the type I diabetic (IDDM) families that were ascertained for Genetic Analysis Workshop 5 (GAW5) than in the general population. Two approaches were used to study the clustering of ATD and IDDM in these families: 1) HLA haplotype shar...

journal_title：Genetic epidemiology

authors： Payami H,Joe S,Thomson G

更新日期：1989-01-01 00:00:00

abstract：:A family cancer database was constructed from the nationwide Swedish registries and includes approximately 6 million persons and >30,000 cancers in offspring diagnosed at ages 15-51 years and their parents. A particular advantage of the database is that the contribution of both parental lineages on cancer risk can be ...

journal_title：Genetic epidemiology

authors： Hemminki K,Vaittinen P

更新日期：1998-01-01 00:00:00

abstract：:We address the analytical problem of evaluating the evidence for linkage at a test locus while taking into account the effect of a known linked disease locus. The method we propose is a multimarker regression approach that models the identity-by-descent states for affected sib-pairs at a series of linked markers in te...

journal_title：Genetic epidemiology

authors： Barber MJ,Todd JA,Cordell HJ

更新日期：2006-04-01 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：:We examined the power of the stepwise iterated generalized least squares (GLS) method by modeling the relationship between quantitative traits and other variables using the simulated data for Problem 2A. The comparison between the generating model provided by the workshop and the results of the stepwise iterated GLS m...

journal_title：Genetic epidemiology

authors： He Q,Nemesure BB,Mendell NR

更新日期：1997-01-01 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：: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

authors： Begum F,Sharker MH,Sherman SL,Tseng GC,Feingold E

更新日期：2016-02-01 00:00:00