Extensions to sib-pair linkage tests applicable to disorders characterized by delayed onset.

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：: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：:Simulation studies were conducted to assess to what extent the conclusions of segregation analysis, performed under the unified model, can be affected by the presence of unmeasured environmental factors shared by family members. Dichotomous data were generated on six-member nuclear families under two variants of the m...

journal_title：Genetic epidemiology

authors： Demenais F,Abel L

更新日期：1989-01-01 00:00:00

abstract：:Our goal was to detect genes contributing to the P300 component of the event related potential (ERP). We found that all of the ERP traits were highly correlated. Most of them distinguished alcoholics from nonalcoholics. To have one summary variable for the ERP traits, we calculated the first principal component (PRIN1...

journal_title：Genetic epidemiology

authors： Goldin LR,Chase GA

更新日期：1999-01-01 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：:Path analysis of nuclear family data has been widely applied to resolve genetic and environmental sources of familial resemblance. Here we report the results of a systematic evaluation of the effects of departures from five modeling assumptions often made when analyzing nuclear family data; i) the observed environment...

journal_title：Genetic epidemiology

authors： McGue M,Wette R,Rao DC

更新日期：1989-01-01 00:00:00

abstract：:We investigated a variety of methods for pooling data from eight data sets (n = 5,424 subjects) to validate evidence for linkage of markers in the cytokine cluster on chromosome 5q31-33 to asthma and asthma-associated phenotypes. Chromosome 5 markers were integrated into current genetic linkage and physical maps, and ...

journal_title：Genetic epidemiology

authors： Jacobs KB,Burton PR,Iyengar SK,Elston RC,Palmer LJ

更新日期：2001-01-01 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：: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：:We have conducted a study of renal sodium and potassium reabsorption in 205 pairs of twins on freely chosen diets; 89 of the subjects were studied on more than one occasion. Renal tubular sodium and potassium handling, as measured by the fractional excretions FENa and FEK, show repeatable differences between individua...

journal_title：Genetic epidemiology

authors： Whitfield JB,Martin NG

更新日期：1985-01-01 00:00:00

abstract：:In case-control genetic association studies, the robust procedure, Pearson's Chi-square test, is commonly used for testing association between disease status and genetic markers. However, this test does not take the possible trend of relative risks, which are due to genotype, into account. On the contrary, although Co...

journal_title：Genetic epidemiology

authors： Chen Z

更新日期：2011-11-01 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：:We have used the unblinded MG1/Q1 Genetic Analysis Workshop 12 simulated data as a model system for investigating the use of linkage disequilibrium structure and simple genotype-phenotype associations to identify candidate functional mutations within a gene of interest. Analysis of the pattern of pairwise linkage dise...

journal_title：Genetic epidemiology

authors： Huang Q,Morrison AC,Boerwinkle E

更新日期：2001-01-01 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：: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：: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 used data from a population based series of breast cancer patients to investigate the genetic models that can best explain familial breast cancer not due to the BRCA1 and BRCA2 genes. The data set consisted of 1,484 women diagnosed with breast cancer under age 55 registered in the East Anglia Cancer registry betwee...

journal_title：Genetic epidemiology

authors： Antoniou AC,Pharoah PD,McMullan G,Day NE,Ponder BA,Easton D

更新日期：2001-07-01 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：:Population isolates may be particularly useful for association studies of complex traits. This utility, however, largely depends on the transferability of tag SNPs chosen from reference samples, such as HapMap, to samples from such populations. Factors that characterize population isolates, such as widespread genetic ...

journal_title：Genetic epidemiology

authors： Service S,International Collaborative Group on Isolated Populations.,Sabatti C,Freimer N

更新日期：2007-04-01 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：:DNA methylation is an important epigenetic mechanism that has been linked to complex diseases and is of great interest to researchers as a potential link between genome, environment, and disease. As the scale of DNA methylation association studies approaches that of genome-wide association studies, issues such as popu...

journal_title：Genetic epidemiology

authors： Barfield RT,Almli LM,Kilaru V,Smith AK,Mercer KB,Duncan R,Klengel T,Mehta D,Binder EB,Epstein MP,Ressler KJ,Conneely KN

更新日期：2014-04-01 00:00:00

abstract：:Power estimations are important for optimizing genotype-phenotype association study designs. However, existing frameworks are designed for common disorders, and thus ill-suited for the inherent challenges of studies for low-prevalence conditions such as rare diseases and infrequent adverse drug reactions. These challe...

journal_title：Genetic epidemiology

authors： Mak L,Li M,Cao C,Gordon P,Tarailo-Graovac M,Bousman C,Wang P,Long Q

更新日期：2018-07-01 00:00:00

abstract：:We develop a Bayesian multi-SNP Markov chain Monte Carlo approach that allows published functional significance scores to objectively inform single nucleotide polymorphism (SNP) prior effect sizes in expression quantitative trait locus (eQTL) studies. We developed the Normal Gamma prior to allow the inclusion of funct...

journal_title：Genetic epidemiology

authors： Boggis EM,Milo M,Walters K

更新日期：2016-05-01 00:00:00

abstract：:Emerging evidence suggests that a genetic variant can affect multiple phenotypes, especially in complex human diseases. Therefore, joint analysis of multiple phenotypes may offer new insights into disease etiology. Recently, many statistical methods have been developed for joint analysis of multiple phenotypes, includ...

journal_title：Genetic epidemiology

authors： Li X,Zhang S,Sha Q

更新日期：2020-01-01 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：:Unaffected individuals are often disregarded in nonparametric linkage analysis. Because of the presumed high complexity of genetic interactions and the resulting low penetrance of any single genetic effect, the statistical contribution of unaffected sib pairs is thought to be considerably lower than that of the affect...

journal_title：Genetic epidemiology

authors： Majewski J

更新日期：2001-01-01 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：: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：:Recently, testing for anticipation has received renewed interest. It is well known that standard statistical methods are inappropriate for this purpose due to problems of sampling bias. Few statistical tests have been proposed for comparing mean age of onset in affected parents with mean age of onset in affected child...

journal_title：Genetic epidemiology

authors： Tsai WY,Heiman GA,Hodge SE

更新日期：2005-04-01 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