To type or not to type: the use of unaffected siblings in nonparametric linkage analysis.

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：: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：: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：:Over the past few years, an increasing number of studies have identified rare variants that contribute to trait heritability. Due to the extreme rarity of some individual variants, gene-based association tests have been proposed to aggregate the genetic variants within a gene, pathway, or specific genomic region as op...

journal_title：Genetic epidemiology

authors： He Z,Lee S,Zhang M,Smith JA,Guo X,Palmas W,Kardia SLR,Ionita-Laza I,Mukherjee B

更新日期：2017-12-01 00:00:00

abstract：:Polygenic risk scores (PRSs) are a method to summarize the additive trait variance captured by a set of SNPs, and can increase the power of set-based analyses by leveraging public genome-wide association study (GWAS) datasets. PRS aims to assess the genetic liability to some phenotype on the basis of polygenic risk fo...

journal_title：Genetic epidemiology

authors： Baker E,Schmidt KM,Sims R,O'Donovan MC,Williams J,Holmans P,Escott-Price V,Consortium WTG

更新日期：2018-06-01 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：:Lander and Kruglyak [1995] gave guidelines for interpreting linkage results based on estimating how often a particular threshold for significance would be exceeded by chance in a single genome scan. What is unknown is how often two or more genome scans would exceed a particular threshold within the same region. We dev...

journal_title：Genetic epidemiology

authors： Badner JA,Goldin LR

更新日期：1999-01-01 00:00:00

abstract：:The prevalence rate for autoimmune thyroid disease (ATD) is about 30 times higher in the type I diabetic (IDDM) families that were ascertained for Genetic Analysis Workshop 5 (GAW5) than in the general population. Two approaches were used to study the clustering of ATD and IDDM in these families: 1) HLA haplotype shar...

journal_title：Genetic epidemiology

authors： Payami H,Joe S,Thomson G

更新日期：1989-01-01 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：:It has been suggested that collections of affected sib pairs, or their nuclear families, may be an efficient method for screening for genetic linkages in schizophrenia. We present the data collected in five years from 15 hospitals in the state of Maryland in an effort to determine if such a collection scheme will be f...

journal_title：Genetic epidemiology

authors： Pulver AE,Bale SJ

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：:To explain the association between HLA-DRB1 gene and rheumatoid arthritis (RA), two main hypotheses have been proposed. The first, the shared epitope hypothesis, assumes a direct role of DRB1 in RA susceptibility. The second hypothesis assumes a recessive disease susceptibility gene in linkage disequilibrium with DRB1...

journal_title：Genetic epidemiology

authors： Génin E,Babron MC,McDermott MF,Mulcahy B,Waldron-Lynch F,Adams C,Clegg DO,Ward RH,Shanahan F,Molloy MG,O'Gara F,Clerget-Darpoux F

更新日期：1998-01-01 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：:The purpose of this commentary is to provide a framework for using the well-known sib-pair methodology in the context of epidemiologic study designs. Using examples from the Pittsburgh family studies of insulin-dependent diabetes mellitus, we illustrate that the sib-pair method can be used in family-based epidemiologi...

journal_title：Genetic epidemiology

authors： Khoury MJ,Flanders WD,Lipton RB,Dorman JS

更新日期：1991-01-01 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：:Complex segregation analysis and linkage methods are mathematical techniques for the genetic dissection of complex diseases. They are used to delineate complex modes of familial transmission and to localize putative disease susceptibility loci to specific chromosomal locations. The computational problem of Bayesian li...

journal_title：Genetic epidemiology

authors： Matthysse S

更新日期：2000-01-01 00:00:00

abstract：:Over the past few years at least 13 transmission/disequilibrium test (TDT)-based tests have been developed for quantitative (Q) traits for the assessment of association or linkage in the presence of the other. A total of six of these QTDT methods were used to analyze log10IgE in the Collaborative Study on the Genetics...

journal_title：Genetic epidemiology

authors： Page GP,Wilcox MA,Occhiuto J,Adak S,Neuberg D,Bajorunaite R,George V

更新日期：2001-01-01 00:00:00

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：: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：:It is possible to estimate the proportionate contributions of ancestral populations to admixed individuals or populations using genetic markers, but different loci and alleles vary considerably in the amount of information that they provide. Conventionally, the allele frequency difference between parental populations ...

journal_title：Genetic epidemiology

authors： Pfaff CL,Barnholtz-Sloan J,Wagner JK,Long JC

更新日期：2004-05-01 00:00:00

abstract：:Meta-analysis has been little explored to make an overall assessment of linkage from different studies. In practice, it is likely that published linkage studies will only report p-values. We compared the performance of the widely used Fisher method for combining p-values with that of pooling raw data. More loci were c...

journal_title：Genetic epidemiology

authors： Guerra R,Etzel CJ,Goldstein DR,Sain SR

更新日期：1999-01-01 00:00:00

abstract：:We examined familial resemblance and performed segregation analysis for the maximal expiratory flow rate at 50% of vital capacity (Vmax50) and the ratio of Vmax50 to forced vital capacity (FVC), based on data from 309 nuclear families with 1,045 individuals in the town of Humboldt, Saskatchewan, in 1993. Vmax50 is con...

journal_title：Genetic epidemiology

authors： Chen Y,Dosman JA,Rennie DC,Lockinger LA

更新日期：1999-01-01 00:00:00

abstract：:The use of patterned covariance matrices in forming pedigree-based mixed models for quantitative traits is discussed. It is suggested that patterned covariance matrix models provide intuitive, theoretically appealing, and flexible genetic modeling devices for pedigree data. It is suggested further that the very great ...

journal_title：Genetic epidemiology

authors： Schork N

更新日期：1991-01-01 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：:The recent successes of genome-wide association studies (GWAS) have renewed interest in genome environment wide interaction studies (GEWIS) to discover genetic factors that modulate penetrance of environmental exposures to human diseases. Indeed, gene-environment interactions (G × E), which have not been emphasized in...

journal_title：Genetic epidemiology

authors： Zhao LP,Fan W,Goodman G,Radich J,Martin P

更新日期：2015-07-01 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：:In this study, we compare the statistical properties of a number of methods for estimating P-values for allele-sharing statistics in non-parametric linkage analysis. Some of the methods are based on the normality assumption, using different variance estimation methods, and others use simulation (gene-dropping) to find...

journal_title：Genetic epidemiology

authors： Jung J,Weeks DE,Feingold E

更新日期：2006-12-01 00:00:00

abstract：:Variance component linkage analysis is commonly used to map quantitative trait loci (QTLs) in general pedigrees. Large pedigrees are especially attractive for these studies because they provide greater power per genotyped individual than small pedigrees. We propose accurate and computationally efficient methods to cal...

journal_title：Genetic epidemiology

authors： Chen WM,Abecasis GR

更新日期：2006-09-01 00:00:00

abstract：:We have conducted a simulation study in small pedigrees to investigate the power to detect linkage and heterogeneity for a disorder due to either one of two independent disease loci. We have considered a highly polymorphic marker locus (PIC = 70%) linked to one disease locus and unlinked to the second. The power to de...

journal_title：Genetic epidemiology

authors： Martinez M,Goldin LR

更新日期：1990-01-01 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