Volume 6 Supplement 1
Genetic Analysis Workshop 14: Microsatellite and single-nucleotide polymorphism
Proceedings
Edited by Joan E Bailey-Wilson, Laura Almasy, Mariza de Andrade, Julia Bailey, Heike Bickeböller, Heather J Cordell, E Warwick Daw, Lynn Goldin, Ellen L Goode, Courtney Gray-McGuire, Wayne Hening, Gail Jarvik, Brion S Maher, Nancy Mendell, Andrew D Paterson, John Rice, Glen Satten, Brian Suarez, Veronica Vieland, Marsha Wilcox, Heping Zhang, Andreas Ziegler and Jean W MacCluer
Genetic Analysis Workshop 14: Microsatellite and single-nucleotide polymorphism. Go to conference site.
Noordwijkerhout, The Netherlands7-10 September 2004
Page 1 of 4
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Citation: BMC Genetics 2005 6(Suppl 1):S1
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Description of the data from the Collaborative Study on the Genetics of Alcoholism (COGA) and single-nucleotide polymorphism genotyping for Genetic Analysis Workshop 14
The data provided to the Genetic Analysis Workshop 14 (GAW 14) was the result of a collaboration among several different groups, catalyzed by Elizabeth Pugh from The Center for Inherited Disease Research (CIDR...
Citation: BMC Genetics 2005 6(Suppl 1):S2 -
Construction of the model for the Genetic Analysis Workshop 14 simulated data: genotype-phenotype relationships, gene interaction, linkage, association, disequilibrium, and ascertainment effects for a complex phenotype
The Genetic Analysis Workshop 14 simulated dataset was designed 1) To test the ability to find genes related to a complex disease (such as alcoholism). Such a disease may be given a variety of definitions by d...
Citation: BMC Genetics 2005 6(Suppl 1):S3 -
Genome scan linkage analysis comparing microsatellites and single-nucleotide polymorphisms markers for two measures of alcoholism in chromosomes 1, 4, and 7
We analyzed 143 pedigrees (364 nuclear families) in the Collaborative Study on the Genetics of Alcoholism (COGA) data provided to the participants in the Genetic Analysis Workshop 14 (GAW14) with the goal of c...
Citation: BMC Genetics 2005 6(Suppl 1):S4 -
Comparison of single-nucleotide polymorphisms and microsatellites in detecting quantitative trait loci for alcoholism: The Collaborative Study on the Genetics of Alcoholism
The feasibility of effectively analyzing high-density single nucleotide polymorphism (SNP) maps in whole genome scans of complex traits is not known. The purpose of this study was to compare variance component...
Citation: BMC Genetics 2005 6(Suppl 1):S5 -
The effect of linkage disequilibrium on linkage analysis of incomplete pedigrees
Dense SNP maps can be highly informative for linkage studies. But when parental genotypes are missing, multipoint linkage scores can be inflated in regions with substantial marker-marker linkage disequilibrium...
Citation: BMC Genetics 2005 6(Suppl 1):S6 -
Comparison of the power between microsatellite and single-nucleotide polymorphism markers for linkage and linkage disequilibrium mapping of an electrophysiological phenotype
We performed linkage and linkage disequilibrium (LD) mapping analyses to compare the power between microsatellite and single nucleotide polymorphism (SNP) markers. Chromosome-wide analyses were performed for a...
Citation: BMC Genetics 2005 6(Suppl 1):S7 -
Genome-wide linkage analysis for alcohol dependence: a comparison between single-nucleotide polymorphism and microsatellite marker assays
Both theoretical and applied studies have proven that the utility of single nucleotide polymorphism (SNP) markers in linkage analysis is more powerful and cost-effective than current microsatellite marker assa...
Citation: BMC Genetics 2005 6(Suppl 1):S8 -
Whole-genome association studies of alcoholism with loci linked to schizophrenia susceptibility
Alcoholism is a complex disease. There have been many reports on significant comorbidity between alcoholism and schizophrenia. For the genetic study of complex diseases, association analysis has been recommend...
Citation: BMC Genetics 2005 6(Suppl 1):S9 -
Linkage analysis of complex diseases using microsatellites and single-nucleotide polymorphisms: application to alcoholism
The efficacy of linkage studies using microsatellites and single-nucleotide polymorphisms (SNPs) was evaluated. Analyzed data were supplied by the Collaborative Study on the Genetics of Alcoholism (COGA). Alco...
Citation: BMC Genetics 2005 6(Suppl 1):S10 -
Comparison of marker types and map assumptions using Markov chain Monte Carlo-based linkage analysis of COGA data
We performed multipoint linkage analysis of the electrophysiological trait ECB21 on chromosome 4 in the full pedigrees provided by the Collaborative Study on the Genetics of Alcoholism (COGA). Three Markov cha...
Citation: BMC Genetics 2005 6(Suppl 1):S11 -
Genome-wide linkage analysis of age at onset of alcohol dependence: a comparison between microsatellites and single-nucleotide polymorphisms
Using the dataset provided for Genetic Analysis Workshop 14 by the Collaborative Study on the Genetics of Alcoholism, we performed genome-wide linkage analysis of age at onset of alcoholism to compare the util...
Citation: BMC Genetics 2005 6(Suppl 1):S12 -
Comparing single-nucleotide polymorphism marker-based and microsatellite marker-based linkage analyses
We compared linkage analysis results for an alcoholism trait, ALDX1 (DSM-III-R and Feigner criteria) using a nonparametric linkage analysis method, which takes into account allele sharing among several affecte...
Citation: BMC Genetics 2005 6(Suppl 1):S13 -
Linkage analysis of the GAW14 simulated dataset with microsatellite and single-nucleotide polymorphism markers in large pedigrees
Recent studies have suggested that a high-density single nucleotide polymorphism (SNP) marker set could provide equivalent or even superior information compared with currently used microsatellite (STR) marker ...
Citation: BMC Genetics 2005 6(Suppl 1):S14 -
Whole-genome variance components linkage analysis using single-nucleotide polymorphisms versus microsatellites on quantitative traits of derived phenotypes from factor analysis of electroencephalogram waves
Alcohol dependence is a serious public health problem. We studied data from families participating in the Collaborative Study on the Genetics of Alcoholism (COGA) and made available to participants in the Gene...
Citation: BMC Genetics 2005 6(Suppl 1):S15 -
Which strategy is better for linkage analysis: single-nucleotide polymorphisms or microsatellites? Evaluation by identity-by-state – identity-by-descent transformation affected sib-pair method on GAW14 data
The central issue for Genetic Analysis Workshop 14 (GAW14) is the question, which is the better strategy for linkage analysis, the use of single-nucleotide polymorphisms (SNPs) or microsatellite markers? To an...
Citation: BMC Genetics 2005 6(Suppl 1):S16 -
A genome-wide linkage analysis of alcoholism on microsatellite and single-nucleotide polymorphism data, using alcohol dependence phenotypes and electroencephalogram measures
The Collaborative Study on the Genetics of Alcoholism (COGA) is a large-scale family study designed to identify genes that affect the risk for alcoholism and alcohol-related phenotypes. We performed genome-wid...
Citation: BMC Genetics 2005 6(Suppl 1):S17 -
Detection of susceptibility loci by genome-wide linkage analysis
The objective of this study is to evaluate the efficacy of a model-free linkage statistics for finding evidence of linkage using two different maps and to illustrate how the comparison of results from several ...
Citation: BMC Genetics 2005 6(Suppl 1):S18 -
Linkage mapping of a complex trait in the New York population of the GAW14 simulated dataset: a multivariate phenotype approach
Multivariate phenotypes underlie complex traits. Thus, instead of using the end-point trait, it may be statistically more powerful to use a multivariate phenotype correlated to the end-point trait for detectin...
Citation: BMC Genetics 2005 6(Suppl 1):S19 -
Investigation of altering single-nucleotide polymorphism density on the power to detect trait loci and frequency of false positive in nonparametric linkage analyses of qualitative traits
Genome-wide linkage analysis using microsatellite markers has been successful in the identification of numerous Mendelian and complex disease loci. The recent availability of high-density single-nucleotide pol...
Citation: BMC Genetics 2005 6(Suppl 1):S20 -
Interval estimation of disease loci: development and applications of new linkage methods
Three variants of the confidence set inference (CSI) procedure were proposed and applied to both the simulated and the Collaborative Study on the Genetics of Alcoholism (COGA) data. For each of the two applica...
Citation: BMC Genetics 2005 6(Suppl 1):S21 -
Inclusion of unaffected sibs increases power in model-free linkage analysis of a behavioral trait
Study design strategies are of critical importance in the search for genes underlying complex diseases. Two important design choices in planning gene mapping studies are the analytic strategy to be used, which...
Citation: BMC Genetics 2005 6(Suppl 1):S22 -
Local false discovery rate and minimum total error rate approaches to identifying interesting chromosomal regions
The simultaneous testing of a large number of hypotheses in a genome scan, using individual thresholds for significance, inherently leads to inflated genome-wide false positive rates. There exist various appro...
Citation: BMC Genetics 2005 6(Suppl 1):S23 -
Resampling methods to reduce the selection bias in genetic effect estimation in genome-wide scans
Using the simulated data of Problem 2 for Genetic Analysis Workshop 14 (GAW14), we investigated the ability of three bootstrap-based resampling estimators (a shrinkage, an out-of-sample, and a weighted estimat...
Citation: BMC Genetics 2005 6(Suppl 1):S24 -
Linkage and association analyses of microsatellites and single-nucleotide polymorphisms in nuclear families
Several simulation studies have suggested that a high-density single-nucleotide polymorphisms (SNPs) marker set may be as useful as a traditional microsatellites (MS) marker set in performing whole-genome link...
Citation: BMC Genetics 2005 6(Suppl 1):S25 -
Comparison of single-nucleotide polymorphisms and microsatellites in inference of population structure
Single-nucleotide polymorphisms (SNPs) are a class of attractive genetic markers for population genetic studies and for identifying genetic variations underlying complex traits. However, the usefulness and eff...
Citation: BMC Genetics 2005 6(Suppl 1):S26 -
A comparison between microsatellite and single-nucleotide polymorphism markers with respect to two measures of information content
Using the Genetic Analysis Workshop 14 (GAW14) simulated dataset, we compare microsatellite and single-nucleotide polymorphism (SNP) markers in terms of two measures of information content, the traditional ent...
Citation: BMC Genetics 2005 6(Suppl 1):S27 -
Whole-genome linkage analysis in mapping alcoholism genes using single-nucleotide polymorphisms and microsatellites
There is currently a great interest in using single-nucleotide polymorphisms (SNPs) in genetic linkage and association studies because of the abundance of SNPs as well as the availability of high-throughput ge...
Citation: BMC Genetics 2005 6(Suppl 1):S28 -
Comparison of microsatellites, single-nucleotide polymorphisms (SNPs) and composite markers derived from SNPs in linkage analysis
There is growing evidence that a map of dense single-nucleotide polymorphisms (SNPs) can outperform a map of sparse microsatellites for linkage analysis. There is also argument as to whether a clustered SNP ma...
Citation: BMC Genetics 2005 6(Suppl 1):S29 -
A genome-wide scanning and fine mapping study of COGA data
A thorough genetic mapping study was performed to identify predisposing genes for alcoholism dependence using the Collaborative Study on the Genetics of Alcoholism (COGA) data. The procedure comprised whole-ge...
Citation: BMC Genetics 2005 6(Suppl 1):S30 -
Linkage analysis and association analysis in the presence of linkage using age at onset of COGA alcoholism data
Complex disease mapping usually involves a combination of linkage and association techniques. Linkage analysis can scan the entire genome in a few hundred tests. Association tests may involve an even greater n...
Citation: BMC Genetics 2005 6(Suppl 1):S31 -
Single-nucleotide polymorphism versus microsatellite markers in a combined linkage and segregation analysis of a quantitative trait
Increasingly, single-nucleotide polymorphism (SNP) markers are being used in preference to microsatellite markers. However, methods developed for microsatellites may be problematic when applied to SNP markers....
Citation: BMC Genetics 2005 6(Suppl 1):S32 -
Application of the propensity score in a covariate-based linkage analysis of the Collaborative Study on the Genetics of Alcoholism
Covariate-based linkage analyses using a conditional logistic model as implemented in LODPAL can increase the power to detect linkage by minimizing disease heterogeneity. However, each additional covariate ana...
Citation: BMC Genetics 2005 6(Suppl 1):S33 -
Multipoint identity-by-descent computations for single-point polymorphism and microsatellite maps
We used the LOKI software to generate multipoint identity-by-descent matrices for a microsatellite map (with 31 markers) and two single-nucleotide polymorphism (SNP) maps to examine information content across ...
Citation: BMC Genetics 2005 6(Suppl 1):S34 -
Simulation-based homozygosity mapping with the GAW14 COGA dataset on alcoholism
We have developed a simulation-based approach to the analysis of shared homozygous chromosomal segments and have applied it to data on allele sharing among alcoholics in a single Collaborative Study on the Gen...
Citation: BMC Genetics 2005 6(Suppl 1):S35 -
Linkage analysis of alcohol dependence using both affected and discordant sib pairs
The basic idea of affected-sib-pair (ASP) linkage analysis is to test whether the inheritance pattern of a marker deviates from Mendelian expectation in a sample of ASPs. The test depends on an assumed Mendeli...
Citation: BMC Genetics 2005 6(Suppl 1):S36 -
Multilocus and interaction-based genome scan for alcoholism risk factors in Caucasian Americans: the COGA study
In this paper, we applied the nonparametric linkage regression approach to the Caucasian genome scan data from the Collaborative Study on the Genetics of Alcoholism to search for regions of the genome that exh...
Citation: BMC Genetics 2005 6(Suppl 1):S37 -
Recursive partitioning models for linkage in COGA data
We have developed a recursive-partitioning (RP) algorithm for identifying phenotype and covariate groupings that interact with the evidence for linkage. This data-mining approach for detecting gene × environme...
Citation: BMC Genetics 2005 6(Suppl 1):S38 -
A Bayesian approach for applying Haseman-Elston methods
The main goal of this paper is to couple the Haseman-Elston method with a simple yet effective Bayesian factor-screening approach. This approach selects markers by considering a set of multigenic models that i...
Citation: BMC Genetics 2005 6(Suppl 1):S39 -
Linkage analysis of GAW14 simulated data: comparison of multimarker, multipoint, and conditional approaches
The purposes of this study were 1) to examine the performance of a new multimarker regression approach for model-free linkage analysis in comparison to a conventional multipoint approach, and 2) to determine t...
Citation: BMC Genetics 2005 6(Suppl 1):S40 -
Genome-wide linkage and association mapping of disease genes with the GAW14 simulated datasets
We combined the results of whole-genome linkage and association analyses to determine which markers were most strongly associated with Kofendrerd Personality Disorder. Using replicate 1 from the Genetic Analys...
Citation: BMC Genetics 2005 6(Suppl 1):S41 -
Identifying genomic regions for fine-mapping using genome scan meta-analysis (GSMA) to identify the minimum regions of maximum significance (MRMS) across populations
In order to detect linkage of the simulated complex disease Kofendrerd Personality Disorder across studies from multiple populations, we performed a genome scan meta-analysis (GSMA). Using the 7-cM microsatell...
Citation: BMC Genetics 2005 6(Suppl 1):S42 -
An updated meta-analysis approach for genetic linkage
We present a meta-analysis procedure for genome-wide linkage studies (MAGS). The MAGS procedure combines genome-wide linkage results across studies with possibly distinct marker maps. We applied the MAGS proce...
Citation: BMC Genetics 2005 6(Suppl 1):S43 -
Calculation of multipoint likelihoods using flanking marker data: a simulation study
The calculation of multipoint likelihoods is computationally challenging, with the exact calculation of multipoint probabilities only possible on small pedigrees with many markers or large pedigrees with few m...
Citation: BMC Genetics 2005 6(Suppl 1):S44 -
Covariate linkage analysis of GAW14 simulated data incorporating subclinical phenotype, sex, population, parent-of-origin, and interaction
We evaluate a method for the incorporation of covariates into linkage analysis using the Genetic Analysis Workshop 14 simulated data. Focusing on a randomly chosen replicate (42) we investigated the effect of ...
Citation: BMC Genetics 2005 6(Suppl 1):S45 -
Modeling the effect of an associated single-nucleotide polymorphism in linkage studies
For linkage analysis in affected sibling pairs, we propose a regression model to incorporate information from a disease-associated single-nucleotide polymorphism located under the linkage peak. This model can ...
Citation: BMC Genetics 2005 6(Suppl 1):S46 -
A gene-model-free method for linkage analysis of a disease-related-trait based on analysis of proband/sibling pairs
In this paper we investigate the power of finding linkage to a disease locus through analysis of the disease-related traits. We propose two family-based gene-model-free linkage statistics. Both involve conside...
Citation: BMC Genetics 2005 6(Suppl 1):S47 -
The role of parametric linkage methods in complex trait analyses using microsatellites
Many investigators of complexly inherited familial traits bypass classical segregation analysis to perform model-free genome-wide linkage scans. Because model-based or parametric linkage analysis may be the mo...
Citation: BMC Genetics 2005 6(Suppl 1):S48 -
Including endophenotypes as covariates in variance component heritability and linkage analysis
The purpose of these analyses was to determine if incorporating or adjusting for covariates in genetic analyses helped or hindered in genetic analyses, specifically heritability and linkage analyses. To study ...
Citation: BMC Genetics 2005 6(Suppl 1):S49 -
Haseman-Elston weighted by marker informativity
In the Haseman-Elston approach the squared phenotypic difference is regressed on the proportion of alleles shared identical by descent (IBD) to map a quantitative trait to a genetic marker. In applications the...
Citation: BMC Genetics 2005 6(Suppl 1):S50
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