POLARIS: Polygenic LD-adjusted risk score approach for set-based analysis of GWAS data.

abstract：:This report investigates the power issue in applying the non-parametric linkage analysis of affected sib-pairs (ASP) [Kruglyak and Lander, 1995: Am J Hum Genet 57:439-454] to localize genes that contribute to human longevity using long-lived sib-pairs. Data were simulated by introducing a recently developed statistica...

journal_title：Genetic epidemiology

authors： Tan Q,Zhao JH,Iachine I,Hjelmborg J,Vach W,Vaupel JW,Christensen K,Kruse TA

更新日期：2004-04-01 00:00:00

abstract：:Several approaches were taken to identify the loci contributing to the quantitative and qualitative phenotypes in the Genetic Analysis Workshop 12 simulated data set. To identify possible quantitative trait loci (QTL), the quantitative traits were analyzed using SOLAR. The four replicates identified as the "best repli...

journal_title：Genetic epidemiology

authors： Pankratz N,Kirkwood SC,Flury L,Koller DL,Foroud T

更新日期：2001-01-01 00:00:00

abstract：:Allele frequencies are generally estimated with data on a set of unrelated individuals. In genetic studies of late-onset diseases, the founding individuals in pedigrees are often not available, and so one is confronted with the problem of estimating allele frequencies with data on related individuals. We focus on sibp...

journal_title：Genetic epidemiology

authors： Broman KW

更新日期：2001-04-01 00:00:00

abstract：:The prevalence of cardiovascular risk factors in Gerona, Spain, is high for the low myocardial infarction incidence and mortality rates in the province. Physical activity is a protective factor against coronary heart disease. We investigated whether the genetic variants Q and R of the paraoxonase Gln-Arg 192 polymorph...

journal_title：Genetic epidemiology

authors： Sentí M,Aubó C,Elosua R,Sala J,Tomás M,Marrugat J

更新日期：2000-03-01 00:00:00

abstract：:We have conducted a simulation study in small pedigrees to investigate the power to detect linkage and heterogeneity for a disorder due to either one of two independent disease loci. We have considered a highly polymorphic marker locus (PIC = 70%) linked to one disease locus and unlinked to the second. The power to de...

journal_title：Genetic epidemiology

authors： Martinez M,Goldin LR

更新日期：1990-01-01 00:00:00

abstract：:We analyzed the GAW11 data on alcoholism provided by the Collaborative Study on the Genetics of Alcoholism (COGA) using an extension of a new test of linkage and association for quantitative traits developed by George et al. [1999]. This method determines linkage between marker loci and quantitative traits, when allel...

journal_title：Genetic epidemiology

authors： Tiwari HK,Zhu X,Elston RC,Shu Y,George V

更新日期：1999-01-01 00:00:00

abstract：:Genetic epidemiology is a relatively new discipline that seeks to unravel the role of genetic factors and their interactions with environmental factors in the etiology of diseases, using population and family study approaches. To characterize the overall direction and emphasis of research strategies used in this field...

journal_title：Genetic epidemiology

authors： Khoury MJ,Beaty TH,Cohen BH

更新日期：1993-01-01 00:00:00

abstract：:With new technologies, multiple types of genomic data are commonly collected on a single set of samples. However, standard analysis methods concentrate on a single data type at a time and ignore the relationships between genes, proteins, and biochemical reactions that give rise to complex phenotypes. In this paper, we...

journal_title：Genetic epidemiology

authors： Fridley BL,Lund S,Jenkins GD,Wang L

更新日期：2012-05-01 00:00:00

abstract：:Although next-generation DNA sequencing technologies have made rare variant association studies feasible and affordable, the development of powerful statistical methods for rare variant association studies is still under way. Most of the existing methods for rare variant association studies compare the number of rare ...

journal_title：Genetic epidemiology

authors： Fang S,Sha Q,Zhang S

更新日期：2012-07-01 00:00:00

abstract：:Advances in high throughput technology have enabled the generation of unprecedented amounts of genomic data (e.g., next-generation sequence data, transcriptomics, metabolomics, and proteomics), which promises to unravel the genetic architecture of complex traits. These discoveries may lead to novel therapeutic targets...

journal_title：Genetic epidemiology

authors： Lee SM,Karrison TG,Cox NJ,Im HK

更新日期：2013-12-01 00:00:00

abstract：:Methods to account for population structure (PS) in genome-wide association studies have been well developed in samples of unrelated individuals, but when a sample is composed of families, the task of finding and accounting for PS is not as straight forward. Family-based tests that condition on parental genotypes or t...

journal_title：Genetic epidemiology

authors： Peloso GM,Dupuis J,Lunetta KL

更新日期：2011-09-01 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：: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

authors： Newcombe PJ,Nelson CP,Samani NJ,Dudbridge F

更新日期：2019-10-01 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

authors： König IR

更新日期：2019-04-01 00:00:00

abstract：:A computer-simulation method is presented for determining and correcting for the effect of maximizing the lod score over disease definitions, penetrance values, and perhaps other model parameters. The method consists of simulating the complete analysis using marker genotypes randomly generated under the assumption of ...

journal_title：Genetic epidemiology

authors： Weeks DE,Lehner T,Squires-Wheeler E,Kaufmann C,Ott J

更新日期：1990-01-01 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

authors： Loehlein Fier H,Prokopenko D,Hecker J,Cho MH,Silverman EK,Weiss ST,Tanzi RE,Lange C

更新日期：2017-05-01 00:00:00

abstract：:Inaccurate genetic (or linkage) maps can reduce the power to detect linkage, increase type I error, and distort haplotype and relationship inference. To improve the accuracy of existing maps, I propose a meta-analysis-based method that combines independent map estimates into a single estimate of the linkage map. The m...

journal_title：Genetic epidemiology

authors： Stewart WC

更新日期：2007-07-01 00:00:00

abstract：:Extensions of the approach to sib-pair linkage tests developed by Haseman and Elston [Behav Genet 2:3-19, 1972] are proposed which incorporate information on age of onset and age at examination. Alternate sources for the age of onset corrections are described, including models for the estimation of parameters associat...

journal_title：Genetic epidemiology

authors： Dawson DV,Kaplan EB,Elston RC

更新日期：1990-01-01 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：: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：: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

authors： Kim YJ,Lee J,Kim BJ,T2D-Genes Consortium.,Park T

更新日期：2017-01-01 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

authors： Lin JA,Zhu H,Mihye A,Sun W,Ibrahim JG,Alzheimer's Neuroimaging Initiative.

更新日期：2014-12-01 00:00:00

abstract：:Multifactor dimensionality reduction (MDR) was developed as a nonparametric and model-free data mining method for detecting, characterizing, and interpreting epistasis in the absence of significant main effects in genetic and epidemiologic studies of complex traits such as disease susceptibility. The goal of MDR is to...

journal_title：Genetic epidemiology

authors： Pattin KA,White BC,Barney N,Gui J,Nelson HH,Kelsey KT,Andrew AS,Karagas MR,Moore JH

更新日期：2009-01-01 00:00:00

abstract：:Three characteristics of genetic epidemiology that distinguish it from its parent disciplines are a focus on population-based research, a focus on the joint effects of genes and the environment, and the incorporation of the underlying biology of the disease into its conceptual models. These principles are illustrated ...

journal_title：Genetic epidemiology

authors： Thomas DC

更新日期：2000-12-01 00:00:00

abstract：:Hybrid designs arose from an effort to combine the benefits of family-based and population-based study designs. A recently proposed hybrid approach augments case-parent triads with population-based control-parent triads, genotyping everyone except the control offspring. Including parents of controls substantially impr...

journal_title：Genetic epidemiology

authors： Vermeulen SH,Shi M,Weinberg CR,Umbach DM

更新日期：2009-02-01 00:00:00

abstract：:The study of the genetic component of early-onset diseases requires investigation into parental genetic effects, particularly those mediated by the mother who can influence the offspring's risk of disease through the effects of her genes acting directly on the intrauterine milieu or indirectly through maternal-gene ch...

journal_title：Genetic epidemiology

authors： Bourgey M,Healy J,Saint-Onge P,Massé H,Sinnett D,Roy-Gagnon MH

更新日期：2011-09-01 00:00:00

abstract：:To better understand the contribution of major gene influences to individual differences in cardiovascular reactivity, we performed a segregation analysis on blood pressure responses to two laboratory tasks, mental arithmetic and bicycle exercise. The study population consisted of 1,451 adults (age > or = 18 years) wh...

journal_title：Genetic epidemiology

authors： Cheng LS,Carmelli D,Hunt SC,Williams RR

更新日期：1997-01-01 00:00:00

abstract：:With challenges in data harmonization and environmental heterogeneity across various data sources, meta-analysis of gene-environment interaction studies can often involve subtle statistical issues. In this paper, we study the effect of environmental covariate heterogeneity (within and between cohorts) on two approache...

journal_title：Genetic epidemiology

authors： Li S,Mukherjee B,Taylor JM,Rice KM,Wen X,Rice JD,Stringham HM,Boehnke M

更新日期：2014-07-01 00:00:00

abstract：:Complex segregation analysis and linkage methods are mathematical techniques for the genetic dissection of complex diseases. They are used to delineate complex modes of familial transmission and to localize putative disease susceptibility loci to specific chromosomal locations. The computational problem of Bayesian li...

journal_title：Genetic epidemiology

authors： Matthysse S

更新日期：2000-01-01 00:00:00

abstract：:We have analyzed allele frequency distribution at the hypervariable locus 3' to the apolipoprotein B gene in a healthy population sample (241 women and 246 men) from the Belgrade area. The bimodal distribution of sixteen different hypervariable region (HVR) alleles and the heterozygosity index (average 0.76) in both s...

journal_title：Genetic epidemiology

authors： Alavantić D,Glisić S,Kandić I

更新日期：1998-01-01 00:00:00