Inflated type I error rates when using aggregation methods to analyze rare variants in the 1000 Genomes Project exon sequencing data in unrelated individuals: summary results from Group 7 at Genetic Analysis Workshop 17.

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：:The purpose of this work is the development of linear trend tests that allow for error (LTT ae), specifically incorporating double-sampling information on phenotypes and/or genotypes. We use a likelihood framework. Misclassification errors are estimated via double sampling. Unbiased estimates of penetrances and genoty...

journal_title：Genetic epidemiology

authors： Gordon D,Haynes C,Yang Y,Kramer PL,Finch SJ

更新日期：2007-12-01 00:00:00

abstract：:Variable selection is growing in importance with the advent of high throughput genotyping methods requiring analysis of hundreds to thousands of single nucleotide polymorphisms (SNPs) and the increased interest in using these genetic studies to better understand common, complex diseases. Up to now, the standard approa...

journal_title：Genetic epidemiology

authors： Fridley BL

更新日期：2009-01-01 00:00:00

abstract：:Two analytic methods were used in the Problem 2 data set. First, generalized estimating equations (GEE) modelling was developed to adjust for familial correlation in regressions evaluating candidate genes and an environmental factor. Second, the affected-pedigree-member (APM) method was used to identify chromosomal re...

journal_title：Genetic epidemiology

authors： Bull SB,Chapman NH,Greenwood CM,Darlington GA

更新日期：1995-01-01 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：: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：:In the past decade, many genome-wide association studies (GWASs) have been conducted to explore association of single nucleotide polymorphisms (SNPs) with complex diseases using a case-control design. These GWASs not only collect information on the disease status (primary phenotype, D) and the SNPs (genotypes, X), but...

journal_title：Genetic epidemiology

authors： Ray D,Basu S

更新日期：2017-07-01 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：:Understanding the genetic background of complex diseases and disorders plays an essential role in the promising precision medicine. The evaluation of candidate genes, however, requires time-consuming and expensive experiments given a large number of possibilities. Thus, computational methods have seen increasing appli...

journal_title：Genetic epidemiology

authors： Zhang Y,Chen Y,Hu T

更新日期：2020-06-01 00:00:00

abstract：:Healthy male monozygotic (MZ) and dizygotic (DZ) twin pairs (MZ pairs = 77; DZ pairs = 88) were studied to assess the effect of dietary intake, physical activity, physical fitness, body mass index (BMI), sum of the triceps and subscapular skinfold measurements, alcohol and caffeine consumption, and smoking patterns on...

journal_title：Genetic epidemiology

authors： Slattery ML,Bishop DT,French TK,Hunt SC,Meikle AW,Williams RR

更新日期：1988-01-01 00:00:00

abstract：:This paper presents a projection regression model (PRM) to assess the relationship between a multivariate phenotype and a set of covariates, such as a genetic marker, age, and gender. In the existing literature, a standard statistical approach to this problem is to fit a multivariate linear model to the multivariate p...

journal_title：Genetic epidemiology

authors： Lin JA,Zhu H,Knickmeyer R,Styner M,Gilmore J,Ibrahim JG

更新日期：2012-09-01 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：:Haplotype sharing analysis is a well-established option for the investigation of the etiology of complex diseases. The statistical power of haplotype association methods depends strongly on how the information of unobserved haplotypes can be captured by multilocus genotypes. In this study we combine an entropy-based m...

journal_title：Genetic epidemiology

authors： Schulz A,Fischer C,Chang-Claude J,Beckmann L

更新日期：2010-05-01 00:00:00

abstract：:The aim of this population-based study was to determine whether asthma aggregates in families, and if so, whether aggregation was consistent with environmental and/or genetic etiologies. Data were from 7,394 nuclear families (41,506 individuals) from the 1968 Tasmanian Asthma Survey, in which all Tasmanian schoolchild...

journal_title：Genetic epidemiology

authors： Jenkins MA,Hopper JL,Giles GG

更新日期：1997-01-01 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：:Four relative-pair methods for detecting genetic linkage were applied to familial Alzheimer's disease data. Results obtained using an extended Haseman-Elston test and a weighted rank pairwise correlation test, which both use information from all relative pairs, were consistent with previously published likelihood resu...

journal_title：Genetic epidemiology

authors： Blossey H,Commenges D,Olson JM

更新日期：1993-01-01 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：: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：: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：: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：:We propose methods to construct meiotic gene maps while controlling the probability of a decision-error. First, a single step gene ordering procedure is presented whose decision-error probability is bounded above by a prespecified threshold. The bound for the error probability is valid under quite general circumstance...

journal_title：Genetic epidemiology

authors： Rogatko A,Babb J,Jordan H,Zacks S

更新日期：1999-01-01 00:00:00

abstract：:The asymptotic distribution of [MOD] scores under the null hypothesis of no linkage is only known for affected sib pairs and other types of affected relative pairs. We have extended the GENEHUNTER-MODSCORE program to allow for simulations under the null hypothesis of no linkage to determine the empirical significance ...

journal_title：Genetic epidemiology

authors： Mattheisen M,Dietter J,Knapp M,Baur MP,Strauch K

更新日期：2008-01-01 00:00:00

abstract：:In this paper, we proposed a multipoint method to assess evidence of linkage to one region by incorporating linkage evidence from another region. This approach uses affected sib pairs in which the number of alleles shared identical by descent (IBD) is the primary statistic. This generalized estimating equation (GEE) a...

journal_title：Genetic epidemiology

authors： Liang KY,Chiu YF,Beaty TH,Wjst M

更新日期：2001-09-01 00:00:00

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：:Complex diseases are presumed to be the results of interactions of several genes and environmental factors, with each gene only having a small effect on the disease. Thus, the methods that can account for gene-gene interactions to search for a set of marker loci in different genes or across genome and to analyze these...

journal_title：Genetic epidemiology

authors： Zhang Z,Zhang S,Wong MY,Wareham NJ,Sha Q

更新日期：2008-05-01 00:00:00

abstract：:One approach to establish linkage is based on allele-sharing methods for sib pairs. Recently, the use of extreme sib pairs (ESP) has been proposed to increase power for mapping quantitative traits in humans. Several approaches have been discussed. In this study, we calculate sample sizes for the various ESP approaches...

journal_title：Genetic epidemiology

authors： Ziegler A,Hebebrand J

更新日期：1998-01-01 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：:We contrast the pooling of multiple data sets with the compound HLOD (HLOD-C) and the posterior probability of linkage (PPL), two approaches that have been shown to have more power in the presence of genetic heterogeneity. We also propose and evaluate several multipoint extensions. ...

journal_title：Genetic epidemiology

authors： Van Eerdewegh P,Dowd M,Dupuis J,Falls K,Hayward B,Santangelo SL

更新日期：2001-01-01 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：:In diseases with a complex mode of inheritance, families with multiple affected individuals are difficult to ascertain. The haplotype sharing statistic (HSS) uses (hidden) co-ancestry between affected individuals from a founder population. These affected individuals will likely not only share the same mutation(s), but...

journal_title：Genetic epidemiology

authors： Van der Meulen MA,te Meerman GJ

更新日期：1997-01-01 00:00:00