Major locus inheritance of apolipoprotein B in Utah pedigrees.

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：: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

authors： Bu D,Yang Q,Meng Z,Zhang S,Li Q

更新日期：2020-10-01 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：:We determined pairwise linkage disequilibria between 12 restriction fragment length polymorphism (RFLP) markers at or near the low-density lipoprotein receptor (LDLR) locus on chromosome 19p13.2-13.1 in 92 unrelated individuals. Of these 12 RFLPs, two were newly identified under a cosmid-based strategy designed to scr...

journal_title：Genetic epidemiology

authors： Hegele RA,Plaetke R,Lalouel JM

更新日期：1990-01-01 00:00:00

abstract：:Recently, Liang et al. ([2001b] Genet. Epidemiol. 21:105-122) proposed a conditional approach to assess linkage evidence on the target region by incorporating linkage information from an unlinked (reference) region using allele shared IBD (identity-by-decent) from affected sib pairs. This is carried out by conditionin...

journal_title：Genetic epidemiology

authors： Chiu YF,Liang KY

更新日期：2004-02-01 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：: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

authors： Palmer CG,Wolkenstein BH,La Rue A,Swan GE,Smalley SL

更新日期：1994-01-01 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：:With new technologies, multiple types of genomic data are commonly collected on a single set of samples. However, standard analysis methods concentrate on a single data type at a time and ignore the relationships between genes, proteins, and biochemical reactions that give rise to complex phenotypes. In this paper, we...

journal_title：Genetic epidemiology

authors： Fridley BL,Lund S,Jenkins GD,Wang L

更新日期：2012-05-01 00:00:00

abstract：:The aim of this paper is to develop a functional-mixed effects modeling (FMEM) framework for the joint analysis of high-dimensional imaging data in a large number of locations (called voxels) of a three-dimensional volume with a set of genetic markers and clinical covariates. Our FMEM is extremely useful for efficient...

journal_title：Genetic epidemiology

authors： Lin JA,Zhu H,Mihye A,Sun W,Ibrahim JG,Alzheimer's Neuroimaging Initiative.

更新日期：2014-12-01 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：:A computer-simulation method is presented for determining and correcting for the effect of maximizing the lod score over disease definitions, penetrance values, and perhaps other model parameters. The method consists of simulating the complete analysis using marker genotypes randomly generated under the assumption of ...

journal_title：Genetic epidemiology

authors： Weeks DE,Lehner T,Squires-Wheeler E,Kaufmann C,Ott J

更新日期：1990-01-01 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：: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：:The potential of genome-wide association analysis can only be realized when they have power to detect signals despite the detrimental effect of multiple testing on power. We develop a weighted multiple testing procedure that facilitates the input of prior information in the form of groupings of tests. For each group a...

journal_title：Genetic epidemiology

authors： Roeder K,Devlin B,Wasserman L

更新日期：2007-11-01 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：: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：: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：: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

abstract：:Unaffected individuals are often disregarded in nonparametric linkage analysis. Because of the presumed high complexity of genetic interactions and the resulting low penetrance of any single genetic effect, the statistical contribution of unaffected sib pairs is thought to be considerably lower than that of the affect...

journal_title：Genetic epidemiology

authors： Majewski J

更新日期：2001-01-01 00:00:00

abstract：:A range of study designs, using unrelated or family controls, were used to investigate the pattern of association with disease of single nucleotide polymorphisms (SNPs) within candidate gene 1 (simulated data). Strong evidence of disease association at the functional locus was detected using all study designs, and in ...

journal_title：Genetic epidemiology

authors： Saunders CL,Crockford GP,Bishop DT,Barrett JH

更新日期：2001-01-01 00:00:00

abstract：:We investigated the utility of two approaches for exploiting pleiotropy to search for genes influencing related traits. To do this we first assessed the genetic correlations among a set of five closely related quantitative traits (Q1, Q2, Q3, Q4, Q5). We then used the genetic correlations among these five traits both ...

journal_title：Genetic epidemiology

authors： Comuzzie AG,Mahaney MC,Almasy L,Dyer TD,Blangero J

更新日期：1997-01-01 00:00:00

abstract：:High-throughput sequencing data can be used to predict phenotypes from genotypes, and this corresponds to establishing a prognostic model. In extended pedigrees the relatedness of subjects provides additional information so that genetic values, fixed or random genetic components, and heritability can be estimated. At ...

journal_title：Genetic epidemiology

authors： Ziegler A,Bohossian N,Diego VP,Yao C

更新日期：2014-09-01 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：:The recurrence risks for an X-linked disease with incomplete penetrance are evaluated for a sib given that an isolated proband (male or female) is affected. The derived formulae are applied to the X-linked form of Alport and fragile X syndromes. ...

journal_title：Genetic epidemiology

authors： Rogatko A

更新日期：1986-01-01 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：: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：: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_title：Genetic epidemiology

authors： Thompson EA,Lin S,Olshen AB,Wijsman EM

更新日期：1993-01-01 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：: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