TDT with covariates and genomic screens with mod scores: their behavior on simulated data.

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：: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：: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：: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

authors： Mensah-Ablorh A,Lindstrom S,Haiman CA,Henderson BE,Marchand LL,Lee S,Stram DO,Eliassen AH,Price A,Kraft P

更新日期：2016-01-01 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：:Recent studies have found an association between presence of apolipoprotein E (APOE) epsilon 4 allele and Alzheimer's disease (AD). The present study compared the cumulative risk of primary progressive dementia (PPD) in relatives of AD probands carrying at least one copy of the epsilon 4 allele with the relatives of A...

journal_title：Genetic epidemiology

authors： Li G,Silverman JM,Altstiel LD,Haroutunian V,Perl DP,Purohit D,Birstein S,Lantz M,Mohs RC,Davis KL

更新日期：1996-01-01 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：: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：:Case-only studies are often used to identify interactions between a genetic factor and an environmental factor under the assumption both factors are independent in the population. However, interpreting a statistical association between the genetic and the environmental factors among the cases, as evidence of a mechani...

journal_title：Genetic epidemiology

authors： VanderWeele TJ,Hernández-Díaz S,Hernán MA

更新日期：2010-05-01 00:00:00

abstract：:We present a range of modelling components designed to facilitate Bayesian analysis of genetic-association-study data. A key feature of our approach is the ability to combine different submodels together, almost arbitrarily, for dealing with the complexities of real data. In particular, we propose various techniques f...

journal_title：Genetic epidemiology

authors： Lunn DJ,Whittaker JC,Best N

更新日期：2006-04-01 00:00:00

abstract：:Mantel statistics provide an additional step to standard approaches in the analysis of gene expression and covariate data, allow the calculation of standard statistics such as correlation, partial correlation, and regression coefficients, and, with permutation tests, provide P values for these statistics to relate the...

journal_title：Genetic epidemiology

authors： Shannon WD,Watson MA,Perry A,Rich K

更新日期：2002-06-01 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

authors： Lee S,Kim S,Fuchsberger C

更新日期：2017-11-01 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：: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：:The importance of haplotype analysis in the context of association fine mapping of disease genes has grown steadily over the last years. Since experimental methods to determine haplotypes on a large scale are not available, phase has to be inferred statistically. For individual genotype data, several reconstruction te...

journal_title：Genetic epidemiology

authors： Becker T,Knapp M

更新日期：2004-07-01 00:00:00

abstract：:Penalized regression methods offer an attractive alternative to single marker testing in genetic association analysis. Penalized regression methods shrink down to zero the coefficient of markers that have little apparent effect on the trait of interest, resulting in a parsimonious subset of what we hope are true perti...

journal_title：Genetic epidemiology

authors： Ayers KL,Cordell HJ

更新日期：2010-12-01 00:00:00

abstract：:The present report summarizes findings on 670 cases of autosomal trisomy diagnosed in Scotland, with actual or expected dates of delivery in 1990 to 1994 inclusive. Cases were notified by cytogenetic service laboratories. There were 277 prenatal and 369 postnatal diagnoses and 24 spontaneous losses. Excluding the latt...

journal_title：Genetic epidemiology

authors： Carothers AD,Boyd E,Lowther G,Ellis PM,Couzin DA,Faed MJ,Robb A

更新日期：1999-01-01 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：: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

authors： Feng H,Gusev A,Pasaniuc B,Wu L,Long J,Abu-Full Z,Aittomäki K,Andrulis IL,Anton-Culver H,Antoniou AC,Arason A,Arndt V,Aronson KJ,Arun BK,Asseryanis E,Auer PL,Azzollini J,Balmaña J,Barkardottir RB,Barnes DR,Barrowda

更新日期：2020-07-01 00:00:00

abstract：:Gene-gene interaction is believed to play an important role in understanding complex traits. Multifactor dimensionality reduction (MDR) was proposed by Ritchie et al. [2001. Am J Hum Genet 69:138-147] to identify multiple loci that simultaneously affect disease susceptibility. Although the MDR method has been widely u...

journal_title：Genetic epidemiology

authors： Namkung J,Elston RC,Yang JM,Park T

更新日期：2009-11-01 00:00:00

abstract：:The transmission disequilibrium test (TDT), originally developed for mapping disease genes, has recently been extended to identify quantitative trait loci (QTL). For quantitative traits important for human health, generally multiple QTLs are involved. In the investigation of the statistical properties of the TDT, back...

journal_title：Genetic epidemiology

authors： Deng HW,Li J,Recker RR

更新日期：2001-11-01 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：:The following Gm and Km immunoglobulin allotypes were determined on the Genetic Analysis Workshop 5 insulin-dependent diabetes mellitus (GAW5 IDDM) families: G1m (1,2,3,17), G2m (23), G3m (5,10,11,13,14,21,28) and Km (1,3). Since the allotype G2m (23) has been rarely studied, due to paucity of typing reagents, it was ...

journal_title：Genetic epidemiology

authors： Field LL,Dugoujon JM

更新日期：1989-01-01 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

authors： Márquez-Luna C,Loh PR,South Asian Type 2 Diabetes (SAT2D) Consortium.,SIGMA Type 2 Diabetes Consortium.,Price AL

更新日期：2017-12-01 00:00:00

abstract：:GAW10 Problem 2 involves a simulated common disease defined by imposing a threshold, T, on a quantitative trait, Q1. Every individual with a value of Q1 > or = T (where T = 40) is defined as affected. Also thought to be associated with the disease as intervening variables are four other quantitative traits (Q2, Q3, Q4...

journal_title：Genetic epidemiology

authors： MacCluer JW,Blangero J,Dyer TD,Speer MC

更新日期：1997-01-01 00:00:00

abstract：:We combined the five chromosome 18 bipolar affective disorder data sets provided by GAW10, totaling 185 families with 3,394 individuals, and performed analysis of differential parental transmission and chromosome 18 marker allele sharing in families with transmission through fathers vs those through mothers. Results i...

journal_title：Genetic epidemiology

authors： Lin JP,Bale SJ

更新日期：1997-01-01 00:00:00

abstract：:The present findings for familial Alzheimer's disease suggest a possible linkage to gene(s) on chromosome 21 for the early onset form and to chromosome 19 for the late onset. Since these results are not unequivocal, possible alternative hypotheses include the effect of genetic heterogeneity or of an oligogenic model o...

journal_title：Genetic epidemiology

authors： Macciardi F,Cavallini MC

更新日期：1993-01-01 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：:When many correlated traits are measured the potential exists to discover the coordinated control of these traits via genotyped polymorphisms. A common statistical approach to this problem involves assessing the relationship between each phenotype and each single nucleotide polymorphism (SNP) individually (PHN); and t...

journal_title：Genetic epidemiology

authors： Klei L,Luca D,Devlin B,Roeder K

更新日期：2008-01-01 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