The recurrence risks for isolated cases with incompletely penetrant X-linked conditions.

abstract：:The importance of haplotype analysis in the context of association fine mapping of disease genes has grown steadily over the last years. Since experimental methods to determine haplotypes on a large scale are not available, phase has to be inferred statistically. For individual genotype data, several reconstruction te...

journal_title：Genetic epidemiology

authors： Becker T,Knapp M

更新日期：2004-07-01 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：:Genetic Analysis Workshop 17 (GAW17) focused on the transition from genome-wide association study designs and methods to the study designs and statistical genetic methods that will be required for the analysis of next-generation sequence data including both common and rare sequence variants. In the 166 contributions t...

journal_title：Genetic epidemiology

authors： Wilson AF,Ziegler A

更新日期：2011-01-01 00:00:00

abstract：:The etiology of complex traits likely involves the effects of genetic and environmental factors, along with complicated interaction effects between them. Consequently, there has been interest in applying genetic association tests of complex traits that account for potential modification of the genetic effect in the pr...

journal_title：Genetic epidemiology

authors： Broadaway KA,Duncan R,Conneely KN,Almli LM,Bradley B,Ressler KJ,Epstein MP

更新日期：2015-07-01 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：: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：:Several methods have been proposed to increase power in rare variant association testing by aggregating information from individual rare variants (MAF < 0.005). However, how to best combine rare variants across multiple ethnicities and the relative performance of designs using different ethnic sampling fractions remai...

journal_title：Genetic epidemiology

authors： Mensah-Ablorh A,Lindstrom S,Haiman CA,Henderson BE,Marchand LL,Lee S,Stram DO,Eliassen AH,Price A,Kraft P

更新日期：2016-01-01 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

authors： Rice JP,Neuman RJ,Hoshaw SL,Daw EW,Gu C

更新日期：1995-01-01 00:00:00

abstract：:A major locus that determines levels of apolipoprotein B (apoB) was revealed by likelihood analysis on 331 members of 36 pedigrees. The major locus explained 43.2% of the observed variance, with the remainder attributed to random environmental factors. Estimated mean apoB levels (mg/dl) were 110.5 +/- 2.5, 141.9 +/- 4...

journal_title：Genetic epidemiology

authors： Hasstedt SJ,Wu L,Williams RR

更新日期：1987-01-01 00:00:00

abstract：:This paper summarizes the analyses by participants in the insulin-dependent diabetes mellitus (IDDM) component of Genetic Analysis Workshop 5 (GAW5). The data were obtained from 94 families with two or more IDDM sibs. Topics treated in the Workshop analysis included the following: methods for detecting associations an...

journal_title：Genetic epidemiology

authors： Spielman RS,Baur MP,Clerget-Darpoux F

更新日期：1989-01-01 00:00:00

abstract：:We performed multivariate genetic analyses of cardiovascular risk factors from two sets of data on US and Australian female twins. Similar models for body mass index (BMI), serum low density (LDL) and high density (HDL) lipoproteins, including age as a covariate, were fitted successfully to both groups. These suggeste...

journal_title：Genetic epidemiology

authors： Duffy DL,O'Connell DL,Heller RF,Martin NG

更新日期：1993-01-01 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：:Sequencing studies using whole-genome or exome scans are still more expensive than genome-wide association studies on a per-subject basis. As a result, only a subset of subjects from a larger study will be selected for sequencing. To perform an agnostic investigation of the entire genome, subjects may be selected that...

journal_title：Genetic epidemiology

authors： Edwards TL,Li C

更新日期：2012-07-01 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：:In the analysis of gene expression data, dimension reduction techniques have been extensively adopted. The most popular one is perhaps the PCA (principal component analysis). To generate more reliable and more interpretable results, the SPCA (sparse PCA) technique has been developed. With the "small sample size, high ...

journal_title：Genetic epidemiology

authors： Liu M,Fan X,Fang K,Zhang Q,Ma S

更新日期：2017-12-01 00:00:00

abstract：:A major locus influencing apolipoprotein AI (apo AI) serum levels was detected using data from the Donner Laboratory Family Study. This locus accounts for 46% of the phenotypic variability in apo AI levels. Multivariate segregation analysis revealed that this major locus also has significant pleiotropic effects on the...

journal_title：Genetic epidemiology

authors： Blangero J,Williams-Blangero S,Mahaney MC

更新日期：1993-01-01 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：: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：: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：: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：: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：:Jewish women have been reported to have a higher risk for familial breast cancer than non-Jewish women and to be more likely to carry mutations in breast cancer genes such as BRCA1. Because BRCA1 mutations also increase women's risk for ovarian cancer, we asked whether Jewish women are at higher risk for familial ovar...

journal_title：Genetic epidemiology

authors： Steinberg KK,Pernarelli JM,Marcus M,Khoury MJ,Schildkraut JM,Marchbanks PA

更新日期：1998-01-01 00:00:00

abstract：:Alcohol dependence often is a familial disorder and has a genetic component. Research in causative factors of alcoholism is coordinated by a multi-center program, COGA [The Collaborative Study on the Genetics of Alcoholism, Begleiter et al., 1995]. We analyzed a subset of the COGA family sample, 84 pedigrees of Caucas...

journal_title：Genetic epidemiology

authors： Windemuth C,Hahn A,Strauch K,Baur MP,Wienker TF

更新日期：1999-01-01 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：:Clinical trial results have recently demonstrated that inhibiting inflammation by targeting the interleukin-1β pathway can offer a significant reduction in lung cancer incidence and mortality, highlighting a pressing and unmet need to understand the benefits of inflammation-focused lung cancer therapies at the genetic...

journal_title：Genetic epidemiology

authors： Sun R,Xu M,Li X,Gaynor S,Zhou H,Li Z,Bossé Y,Lam S,Tsao MS,Tardon A,Chen C,Doherty J,Goodman G,Bojesen SE,Landi MT,Johansson M,Field JK,Bickeböller H,Wichmann HE,Risch A,Rennert G,Arnold S,Wu X,Melander O,

更新日期：2021-02-01 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：:Results of studies for the association of BRCA1 genotypes and haplotypes with sporadic breast cancer have been inconsistent. Therefore, a candidate single nucleotide polymorphism (SNP) approach was used in a breast cancer case-control study to explore genotypes and haplotypes that have the potential to affect protein ...

journal_title：Genetic epidemiology

authors： Ricks-Santi LJ,Nie J,Marian C,Ochs-Balcom HM,Trevisan M,Edge SB,Kanaan Y,Freudenheim JL,Shields PG

更新日期：2013-07-01 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：: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：:Testing for association between two random vectors is a common and important task in many fields, however, existing tests, such as Escoufier's RV test, are suitable only for low-dimensional data, not for high-dimensional data. In moderate to high dimensions, it is necessary to consider sparse signals, which are often ...

journal_title：Genetic epidemiology

authors： Xu Z,Xu G,Pan W,Alzheimer's Disease Neuroimaging Initiative.

更新日期：2017-11-01 00:00:00