Measuring the inflation of the lod score due to its maximization over model parameter values in human linkage analysis.

abstract：:A genetic epidemiologic investigation of breast cancer involving 389 breast cancer pedigrees including information on 14,721 individuals from the Icelandic population-based cancer registry is presented. Probands were women born in or after 1920 and reported to have breast cancer in the cancer registry. The average age...

journal_title：Genetic epidemiology

authors： Baffoe-Bonnie AB,Beaty TH,Bailey-Wilson JE,Kiemeney LA,Sigvaldason H,Olafsdóttir G,Tryggvadóttir L,Tulinius H

更新日期：2000-01-01 00:00:00

abstract：:The purpose of the current study was to utilize the Genetic Analysis Workshop 12 simulated data to evaluate fine-mapping strategies for quantitative traits. We approached the analysis as if it was a follow-up to a genome scan that had identified two regions of interest and used the provided 1-cM density microsatellite...

journal_title：Genetic epidemiology

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

更新日期：2001-01-01 00:00:00

abstract：:Meta-analyses of genetic association studies are usually performed using a single polymorphism at a time, even though in many cases the individual studies report results from partially overlapping sets of polymorphisms. We present here a multipoint (or multilocus) method for multivariate meta-analysis of published pop...

journal_title：Genetic epidemiology

authors： Bagos PG,Liakopoulos TD

更新日期：2010-11-01 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：: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：: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：: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：: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

authors： Quick C,Anugu P,Musani S,Weiss ST,Burchard EG,White MJ,Keys KL,Cucca F,Sidore C,Boehnke M,Fuchsberger C

更新日期：2020-09-01 00:00:00

abstract：:Grade of membership analysis (GoM) may have particular relevance for genetic epidemiology. The method can flexibly relate genetic markers, clinical features, and environmental exposures to possible subtypes of disease termed pure types even when population allele frequencies and penetrance functions are not known. Hen...

journal_title：Genetic epidemiology

authors： Corder EH,Woodbury MA

更新日期：1993-01-01 00:00:00

abstract：:The Framingham Heart Study data, as well as a related simulated data set, were generously provided to the participants of the Genetic Analysis Workshop 13 in order that newly developed and emerging statistical methodologies could be tested on that well-characterized data set. The impetus driving the development of nov...

journal_title：Genetic epidemiology

authors： Costello TJ,Falk CT,Ye KQ

更新日期：2003-01-01 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：:Human apolipoprotein A-IV (APO A-IV) exhibits a common protein polymorphism detectable by isoelectric focusing (IEF) due to a single base substitution at codon 360 which replaces the frequently occurring glutamine residue (allele 1) with histidine (allele 2). Recently, sequence analysis of the APO A-IV coding region h...

journal_title：Genetic epidemiology

authors： Kamboh MI,Hamman RF,Ferrell RE

更新日期：1992-01-01 00:00:00

abstract：:There has been extensive literature on modeling gene-gene interaction (GGI) and gene-environment interaction (GEI) in case-control studies with limited literature on statistical methods for GGI and GEI in longitudinal cohort studies. We borrow ideas from the classical two-way analysis of variance literature to address...

journal_title：Genetic epidemiology

authors： Ko YA,Saha-Chaudhuri P,Park SK,Vokonas PS,Mukherjee B

更新日期：2013-09-01 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：: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：:The participants of Presentation Group 18 of Genetic Analysis Workshop 14 analyzed the Collaborative Study on the Genetics of Alcoholism data set to investigate sex-specific effects for phenotypes related to alcohol dependence. In particular, the participants looked at imprinting (which is also known as parent-of-orig...

journal_title：Genetic epidemiology

authors： Strauch K,Baur MP

更新日期：2005-01-01 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 aim of this paper is to generalize permutation methods for multiple testing adjustment of significant partial regression coefficients in a linear regression model used for microarray data. Using a permutation method outlined by Anderson and Legendre [1999] and the permutation P-value adjustment from Simon et al. [...

journal_title：Genetic epidemiology

authors： Wagner BD,Zerbe GO,Mexal S,Leonard SS

更新日期：2008-01-01 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

authors： Saad M,Wijsman EM

更新日期：2014-11-01 00:00:00

abstract：:Family data are useful for estimating disease risk in carriers of specific genotypes of a given gene (penetrance). Penetrance is frequently estimated assuming that relatives' phenotypes are independent, given their genotypes for the gene of interest. This assumption is unrealistic when multiple shared risk factors con...

journal_title：Genetic epidemiology

authors： Gong G,Hannon N,Whittemore AS

更新日期：2010-05-01 00:00:00

abstract：:The extended transmission disequilibrium test (ETDT) of Sham and Curtis [1995] is a powerful test of the null hypothesis of no linkage between a multi-allelic marker locus and a disease susceptibility locus of unknown location in the presence of association between alleles at the two loci. We propose a generalization ...

journal_title：Genetic epidemiology

authors： Morris A,Whittaker J

更新日期：1999-01-01 00:00:00

abstract：:A robust approach for estimating standard errors of variance components by using quantitative phenotypes from families ascertained through a proband with an extreme phenotypic value is presented. Estimators that use the multivariate normal distribution as a "working likelihood" are obtained by computing conditional ln...

journal_title：Genetic epidemiology

authors： Beaty TH,Liang KY

更新日期：1987-01-01 00:00:00

abstract：:In this study, we compare the statistical properties of a number of methods for estimating P-values for allele-sharing statistics in non-parametric linkage analysis. Some of the methods are based on the normality assumption, using different variance estimation methods, and others use simulation (gene-dropping) to find...

journal_title：Genetic epidemiology

authors： Jung J,Weeks DE,Feingold E

更新日期：2006-12-01 00:00:00

abstract：:Rheumatoid arthritis is an inflammatory disease for which positive associations have been described with some HLA-DRB1 alleles. The associated alleles share a similar amino acid sequence in the third hypervariable region, the shared epitope, but differ at position 71 and 86. It has been suggested that HLA susceptibili...

journal_title：Genetic epidemiology

authors： Tézenas du Montcel S,Reviron D,Genin E,Roudier J,Mercier P,Clerget-Darpoux F

更新日期：2000-12-01 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：:Asthma and atopy are two closely related, common complex traits in which a number of genetic and environmental factors are suspected to play a role. We have performed parametric and nonparametric multi-marker linkage analysis for the Busselton data set, which is part of problem 1 of Genetic Analysis Workshop 12. In pa...

journal_title：Genetic epidemiology

authors： Strauch K,Bogdanow M,Fimmers R,Baur MP,Wienker TF

更新日期：2001-01-01 00:00:00

abstract：:Bone mass may be so reduced in some individuals as to be characterized as osteoporotic, with resulting fracture, particularly of the proximal femur, vertebrae, or wrist. We identified 34 mother-daughter sets (n = 70) and 29 sibling sets (n = 59) from a community study of bone mass correlates to assess the degree of re...

journal_title：Genetic epidemiology

authors： Sowers MR,Burns TL,Wallace RB

更新日期：1986-01-01 00:00:00

abstract：:Association mapping for complex diseases using unrelated individuals can be more powerful than family-based analysis in many settings. In addition, this approach has major practical advantages, including greater efficiency in sample recruitment. Association mapping may lead to false-positive findings, however, if popu...

journal_title：Genetic epidemiology

authors： Zhu X,Zhang S,Zhao H,Cooper RS

更新日期：2002-08-01 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：: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