Trends in prenatal diagnosis of Down syndrome and other autosomal trisomies in Scotland 1990 to 1994, with associated cytogenetic and epidemiological findings.

abstract：:Family-based designs enriched with affected subjects and disease associated variants can increase statistical power for identifying functional rare variants. However, few rare variant analysis approaches are available for time-to-event traits in family designs and none of them applicable to the X chromosome. We develo...

journal_title：Genetic epidemiology

authors： Chien LC,Bowden DW,Chiu YF

更新日期：2017-09-01 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：:The restricted partition method (RPM) is a partitioning algorithm for examining multi-locus genotypes as (potentially non-additive) predictors of a quantitative trait. The motivating application was to develop a robust method to examine quantitative phenotypes for epistasis (gene-gene interactions), but the method can...

journal_title：Genetic epidemiology

authors： Culverhouse R,Klein T,Shannon W

更新日期：2004-09-01 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：:Cancer has predominant environmental and somatic causes but the assessment of hereditary (genetic) causes is difficult, except for highly penetrant single-gene causes. Family studies are only partially informative in this regard because family members share diet and life-styles. Twin studies have been classically used...

journal_title：Genetic epidemiology

authors： Hemminki K,Lönnstedt I,Vaittinen P,Lichtenstein P

更新日期：2001-01-01 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：: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：:Genetic studies are continuing to generate volumes and variety of data that can be used to examine the genetic effects. Often the effect of a genetic variant varies by nongenetic measures, what is traditionally defined as gene-environment interaction (G×E). If the G×E term is neglected, estimates of the main effects c...

journal_title：Genetic epidemiology

authors： Lobach I

更新日期：2018-12-01 00:00:00

abstract：:Haplotype-sharing was examined in sets of affected siblings in the Breast Cancer Linkage Consortium pedigrees [Easton et al., 1993], using both identity-by-descent and identity-by-state methods. Linkage of the disease susceptibility locus to markers on chromosome 17 was confirmed. Substantial genetic heterogeneity was...

journal_title：Genetic epidemiology

authors： Barrett JH,Rigby AS

更新日期：1995-01-01 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：: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：: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：:In an earlier paper, positive but nonsignificant lod scores were found in pair-wise linkage tests between multiple endocrine neoplasia type 2A (MEN-2A) and both the haptoglobin (HP) locus on chromosome 16 and group-specific component (GC) locus on chromosome 4. Recently discovered restriction fragment length polymorph...

journal_title：Genetic epidemiology

authors： Kidd KK,Kidd JR,Castiglione CM,Pakstis AJ,Sparkes RS

更新日期：1986-01-01 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：:Copper incorporation studies were performed on individuals from 58 pedigrees, comprising 140 sibships. As previously reported, there is considerable overlap between heterozygotes and normal homozygotes. Segregation analysis supports recessive inheritance of disease, with residual heritability for 64Cu uptake in cultur...

journal_title：Genetic epidemiology

authors： Horn N,Morton NE

更新日期：1986-01-01 00:00:00

abstract：:A dense set of 5,000 SNPs on a 10-Mb region of human chromosome 20 has been typed on samples of African Americans, East Asians, and United Kingdom Caucasians. There are departures from Hardy-Weinberg equilibrium beyond the level at which markers are often discarded because of possible genotyping errors. The observatio...

journal_title：Genetic epidemiology

authors： Weir BS,Hill WG,Cardon LR,SNP Consortium.

更新日期：2004-12-01 00:00:00

abstract：:Site-specific familial aggregation and evidence supporting Mendelian codominant inheritance have been shown in lung cancer. In characterizing lung cancer families, a number of other cancers have been observed. The current study evaluates whether first-degree relatives of early onset lung cancer cases are at increased ...

journal_title：Genetic epidemiology

authors： Schwartz AG,Siegfried JM,Weiss L

更新日期：1999-11-01 00:00:00

abstract：:Logistic regression is the primary analysis tool for binary traits in genome-wide association studies (GWAS). Multinomial regression extends logistic regression to multiple categories. However, many phenotypes more naturally take ordered, discrete values. Examples include (a) subtypes defined from multiple sources of ...

journal_title：Genetic epidemiology

authors： German CA,Sinsheimer JS,Klimentidis YC,Zhou H,Zhou JJ

更新日期：2020-04-01 00:00:00

abstract：:Regressive models that incorporate measured variables and assumed genetic parameters were used to detect interactions between gene, research site, and environmental variables in GAW11 Problem 2. Replicates 1 to 5 were used in the analyses. Significant three-way gene x environment x site interactions were seen for all ...

journal_title：Genetic epidemiology

authors： Shin J,Corey M

更新日期：1999-01-01 00:00:00

abstract：:This paper describes a general genetic model which encompasses both autosomal and X-linked inheritance as submodels. It allows one to test for X-linked inheritance of a trait by comparing the likelihood of X-linked inheritance to the likelihood of the general genetic model. The general model is formulated as two loci,...

journal_title：Genetic epidemiology

authors： Hasstedt SJ,Skolnick M

更新日期：1984-01-01 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：: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：: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：:Genes, including those with transgenerational effects, work in concert with behavioral, environmental, and social factors via complex biological networks to determine human health. Understanding complex relationships between causal factors underlying human health is an essential step towards deciphering biological mec...

journal_title：Genetic epidemiology

authors： Lou XY,Hou TT,Liu SY,Xu HM,Lin F,Tang X,MacLeod SL,Cleves MA,Hobbs CA

更新日期：2020-09-30 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：: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 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：:Standard linear regression is commonly used for genetic association studies of quantitative traits. This approach may not be appropriate if the trait, on its original or transformed scales, does not follow a normal distribution. A rank-based nonparametric approach that does not rely on any distributional assumptions c...

journal_title：Genetic epidemiology

authors： Li Q,Li Z,Zheng G,Gao G,Yu K

更新日期：2013-05-01 00:00:00

abstract：:High-throughput sequencing technologies have enabled large-scale studies of the role of the human microbiome in health conditions and diseases. Microbial community level association test, as a critical step to establish the connection between overall microbiome composition and an outcome of interest, has now been rout...

journal_title：Genetic epidemiology

authors： Zhan X,Tong X,Zhao N,Maity A,Wu MC,Chen J

更新日期：2017-04-01 00:00:00

abstract：:We address the analytical problem of evaluating the evidence for linkage at a test locus while taking into account the effect of a known linked disease locus. The method we propose is a multimarker regression approach that models the identity-by-descent states for affected sib-pairs at a series of linked markers in te...

journal_title：Genetic epidemiology

authors： Barber MJ,Todd JA,Cordell HJ

更新日期：2006-04-01 00:00:00