Abstract:
:Monte Carlo methods for linkage and segregation analysis are applied to the HGAR1 pedigree. To address these data, the methods are extended in several ways. The results are compared with those provided by PAP.
journal_name
Genet Epidemioljournal_title
Genetic epidemiologyauthors
Thompson EA,Lin S,Olshen AB,Wijsman EMdoi
10.1002/gepi.1370100658subject
Has Abstractpub_date
1993-01-01 00:00:00pages
677-82issue
6eissn
0741-0395issn
1098-2272journal_volume
10pub_type
杂志文章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
pub_type: 杂志文章
doi:10.1002/gepi.22330
更新日期:2020-10-01 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
pub_type: 杂志文章
doi:10.1002/gepi.1370010105
更新日期:1984-01-01 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
pub_type: 杂志文章
doi:10.1002/gepi.21789
更新日期:2014-04-01 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
pub_type: 杂志文章
doi:10.1002/gepi.20493
更新日期:2010-05-01 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
pub_type: 杂志文章
doi:10.1002/gepi.21646
更新日期:2012-07-01 00:00:00
abstract::A family cancer database was constructed from the nationwide Swedish registries and includes approximately 6 million persons and >30,000 cancers in offspring diagnosed at ages 15-51 years and their parents. A particular advantage of the database is that the contribution of both parental lineages on cancer risk can be ...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/(SICI)1098-2272(1998)15:3<225::AID-GEPI2>3
更新日期:1998-01-01 00:00:00
abstract::Our group studied the effects of genotyping errors, pedigree errors, and missing data on a wide range of techniques, with a focus on the role of single-nucleotide polymorphisms (SNPs). Half of our group used simulated data, and half of our group used data from the Collaborative Study on the Genetics of Alcoholism (COG...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.20120
更新日期:2005-01-01 00:00:00
abstract::Genome-wide association studies are proven tools for finding disease genes, but it is often necessary to combine many cohorts into a meta-analysis to detect statistically significant genetic effects. Often the component studies are performed by different investigators on different populations, using different chips wi...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.21949
更新日期:2016-02-01 00:00:00
abstract::In spite of the success of genome-wide association studies in finding many common variants associated with disease, these variants seem to explain only a small proportion of the estimated heritability. Data collection has turned toward exome and whole genome sequencing, but it is well known that single marker methods ...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.21746
更新日期:2013-09-01 00:00:00
abstract::We propose a new approach to detect gene × gene joint action in genome-wide association studies (GWASs) for case-control designs. This approach offers an exhaustive search for all two-way joint action (including, as a special case, single gene action) that is computationally feasible at the genome-wide level and has r...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.21779
更新日期:2014-01-01 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
pub_type: 杂志文章,多中心研究
doi:10.1002/gepi.22020
更新日期:2017-01-01 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
pub_type: 杂志文章
doi:10.1002/gepi.22191
更新日期:2019-04-01 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
pub_type: 杂志文章
doi:10.1002/gepi.22060
更新日期:2017-11-01 00:00:00
abstract::We investigate the relevance of the genetic determination of bone mineral density (BMD) variation to that of differential risk to osteoporotic fractures (OF). The high heritability (h(2)) of BMD and the significant phenotypic correlations between high BMD and low risk to OF are well known. Little is reported on h(2) f...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.1040
更新日期:2002-01-01 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
pub_type: 杂志文章
doi:10.1002/gepi.20491
更新日期:2010-05-01 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
pub_type: 杂志文章
doi:10.1002/gepi.21660
更新日期:2012-09-01 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
pub_type: 杂志文章
doi:10.1002/(SICI)1098-2272(1996)13:1<79::AID-GEPI7>3.
更新日期:1996-01-01 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
pub_type: 杂志文章
doi:10.1002/gepi.1370110506
更新日期:1994-01-01 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
pub_type: 杂志文章
doi:10.1002/gepi.1032
更新日期:2001-11-01 00:00:00
abstract::A genome-wide correlation analysis and cluster analysis were utilized to determine chromosomal regions that had similar nonparametric linkage scores across families in order to locate interacting susceptibility loci for asthma. Conditional analysis was performed to detect any increase in lod score over baseline. Eight...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.2001.21.s1.s266
更新日期:2001-01-01 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
pub_type: 杂志文章
doi:10.1002/gepi.20337
更新日期:2008-11-01 00:00:00
abstract::We describe an extension to the TDT (transmission/disequilibrium test) which allows for more than two marker alleles and for covariates measured on the parent or offspring. We also describe a systematic genomic search where the mod score (maximized lod score) is computed for each marker under constraints on the popula...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.1370120623
更新日期:1995-01-01 00:00:00
abstract::By analyzing more next-generation sequencing data, researchers have affirmed that rare genetic variants are widespread among populations and likely play an important role in complex phenotypes. Recently, a handful of statistical models have been developed to analyze rare variant (RV) association in different study des...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.21804
更新日期:2014-05-01 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
pub_type: 杂志文章
doi:10.1002/gepi.2001.21.s1.s467
更新日期:2001-01-01 00:00:00
abstract::Nontraditional glycemic biomarkers, including fructosamine, glycated albumin, and 1,5-anhydroglucitol (1,5-AG) are potential alternatives or complement to traditional measures of hyperglycemia. Genetic variants are associated with these biomarkers, but the heritability, or extent to which genetics control their variat...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.22243
更新日期:2019-10-01 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
pub_type: 杂志文章
doi:10.1002/gepi.20140
更新日期:2006-04-01 00:00:00
abstract::The multiplicity problem has become increasingly important in genetic studies as the capacity for high-throughput genotyping has increased. The control of False Discovery Rate (FDR) (Benjamini and Hochberg. [1995] J. R. Stat. Soc. Ser. B 57:289-300) has been adopted to address the problems of false positive control an...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.20164
更新日期:2006-09-01 00:00:00
abstract::Identifying gene-environment (G-E) interactions can contribute to a better understanding of disease etiology, which may help researchers develop disease prevention strategies and interventions. One big criticism of studying G-E interaction is the lack of power due to sample size. Studies often restrict the interaction...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.22043
更新日期:2017-07-01 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
pub_type: 杂志文章
doi:10.1002/gepi.21961
更新日期:2016-05-01 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
pub_type: 杂志文章
doi:10.1002/gepi.22326
更新日期:2020-09-01 00:00:00