Lessons learned from Genetic Analysis Workshop 17: transitioning from genome-wide association studies to whole-genome statistical genetic analysis.

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

abstract：:Linkage analyses and association studies were employed to detect disease susceptibility loci leading to elevated Q1 levels in Problem 2B. Phenotypes were defined to be the dichotomous affection status, the quantitative value for Q1, and Q1 adjusted for covariates. The method of mod-scores (for the dichotomous phenotyp...

journal_title：Genetic epidemiology

authors： Neuman RJ,Xian H

更新日期：1997-01-01 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：: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：:The role of a gene in a disease may be hidden by the presence of another risk factor such as an environmental factor. In that case, stratifying the data according to this factor strengthens power to detect linkage or association. We followed this strategy on the simulated data provided by GAW11. The transmission/diseq...

journal_title：Genetic epidemiology

authors： Eichenbaum-Voline S,Baur MP,Knapp M

更新日期：1999-01-01 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：: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 examined the inheritance of juvenile myoclonic epilepsy (JME). We looked at both the trait of "epilepsy" and the trait of "epilepsy-plus-EEG abnormalities," since EEG abnormalities are frequently found in the clinically unaffected sibs of JME patients. We tested several modes of inheritance including the fully pene...

journal_title：Genetic epidemiology

authors： Greenberg DA,Delgado-Escueta AV,Maldonado HM,Widelitz H

更新日期：1988-01-01 00:00:00

abstract：:Artificial neural networks were applied to the alcoholism data to reveal nonlinear relationships between intermediate phenotypes, marker identity-by-descent sharing, and the affection status. A variable number of hidden units were considered to achieve a balance between the minimal mean-squared error and over-fitting ...

journal_title：Genetic epidemiology

authors： Li W,Haghighi F,Falk CT

更新日期：1999-01-01 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：: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：:Association tests of multilocus haplotypes are of interest both in linkage disequilibrium mapping and in candidate gene studies. For case-parent trios, I discuss the extension of existing multilocus methods to include ambiguous haplotypes in tests of models which distinguish between the cis and trans phase. A likeliho...

journal_title：Genetic epidemiology

authors： Dudbridge F

更新日期：2003-09-01 00:00:00

abstract：:Genetic epidemiology is a relatively new discipline that seeks to unravel the role of genetic factors and their interactions with environmental factors in the etiology of diseases, using population and family study approaches. To characterize the overall direction and emphasis of research strategies used in this field...

journal_title：Genetic epidemiology

authors： Khoury MJ,Beaty TH,Cohen BH

更新日期：1993-01-01 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：: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：: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

authors： He L,Sillanpää MJ,Ripatti S,Pitkäniemi J

更新日期：2014-05-01 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：:Twin pairs are sometimes included in studies because at least one of them is a proband, and conventionally the analysis of the data is based on the conditional distribution of the co twin given the proband. In the case of more than one proband in each pair, an often used "ad hoc" method of analysis is to allow each tw...

journal_title：Genetic epidemiology

authors： Hindsberger C,Bryld LE

更新日期：2003-11-01 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：:HLA-A, -B, -C, -DR, and -DQ typings of the Schmiedeleut Hutterites of South Dakota were collected as part of an ongoing genetic-epidemiologic study of HLA and fertility. A total of 1,082 individuals, including 852 married adults representative of the reproductive population of this isolate, were characterized for five...

journal_title：Genetic epidemiology

authors： Dawson DV,Ober C,Kostyu DD

更新日期：1995-01-01 00:00:00

abstract：:Atopic disease is generally recognized to be familial, although specific genetic components have yet to be identified. High levels of a unique class of immunoglobulins, immunoglobulin E (IgE), have been shown to be associated with allergies. Several investigators have reported evidence indicating a recessive regulator...

journal_title：Genetic epidemiology

authors： Borecki IB,Rao DC,Lalouel JM,McGue M,Gerrard JW

更新日期：1985-01-01 00:00:00

abstract：:In case-control genetic association studies, the robust procedure, Pearson's Chi-square test, is commonly used for testing association between disease status and genetic markers. However, this test does not take the possible trend of relative risks, which are due to genotype, into account. On the contrary, although Co...

journal_title：Genetic epidemiology

authors： Chen Z

更新日期：2011-11-01 00:00:00

abstract：:In this paper we investigate the power to identify gene x gene interactions in genome-wide association studies. In our analysis we focus on two-stage analyses: analyses in which we only test for interactions between single nucleotide polymorphisms that show some marginal effect. We give two algorithms to compute signi...

journal_title：Genetic epidemiology

authors： Kooperberg C,Leblanc M

更新日期：2008-04-01 00:00:00

abstract：:Using the Genetic Analysis Workshop 12 simulated data, we contrasted results for association tests in nuclear families and extended pedigrees using single-nucleotide polymorphism (SNP) data, and we compared results for different trait definitions, for outbred and isolate populations, and for SNP and microsatellite dat...

journal_title：Genetic epidemiology

authors： Wilk JB,Volcjak JS,Myers RH,Maher NE,Knowlton BA,Heard-Costa NL,Demissie S,Cupples LA,DeStefano AL

更新日期：2001-01-01 00:00:00

abstract：:We used variance-components analysis to investigate the additive genetic effects regulating some of the phenotypes included in the GAW11 data set. Variance-components models were fitted using Gibbs sampling methods in BUGS v 0.6. Linkage analyses for both multivariate normal (MvN) traits and right censored survival ti...

journal_title：Genetic epidemiology

authors： Palmer LJ,Tiller KJ,Burton PR

更新日期：1999-01-01 00:00:00

abstract：:An extension of the traditional regression of offspring on midparent (ROMP) method was used to estimate the heritability of the trait, test for marker association, and estimate the heritability attributable to a marker locus. The fifty replicates of the Genetic Analysis Workshop (GAW) 12 simulated general population d...

journal_title：Genetic epidemiology

authors： Pugh EW,Papanicolaou GJ,Justice CM,Roy-Gagnon MH,Sorant AJ,Kingman A,Wilson AF

更新日期：2001-01-01 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：:For the association analysis of whole-genome sequencing (WGS) studies, we propose an efficient and fast spatial-clustering algorithm. Compared to existing analysis approaches for WGS data, that define the tested regions either by sliding or consecutive windows of fixed sizes along variants, a meaningful grouping of ne...

journal_title：Genetic epidemiology

authors： Loehlein Fier H,Prokopenko D,Hecker J,Cho MH,Silverman EK,Weiss ST,Tanzi RE,Lange C

更新日期：2017-05-01 00:00:00

abstract：:The results of classical segregation analysis on 159 families with polycystic kidney disease (PKD) are presented. It had been previously estimated that about 95% of autosomal dominant PKD (ADPKD) families have PKD1, the gene localized to chromosome 16p. The main purpose of the study was to determine if PKD shows any s...

journal_title：Genetic epidemiology

authors： Dobin A,Kimberling WJ,Pettinger W,Bailey-Wilson JE,Shugart YY,Gabow P

更新日期：1993-01-01 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