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Genomic screening in family-based association testing

Due to the recent gains in the availability of single-nucleotide polymorphism data, genome-wide association testing has become feasible. It is hoped that this additional data may confirm the presence of disease susceptibility loci, and identify new genetic determinants of disease. However, the probl...

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Autores principales: Murphy, Amy, McQueen, Matthew B, Su, Jessica, Kraft, Peter, Lazarus, Ross, Laird, Nan M, Lange, Christoph, Van Steen, Kristel
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2005
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1866823/
https://www.ncbi.nlm.nih.gov/pubmed/16451572
http://dx.doi.org/10.1186/1471-2156-6-S1-S115
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author Murphy, Amy
McQueen, Matthew B
Su, Jessica
Kraft, Peter
Lazarus, Ross
Laird, Nan M
Lange, Christoph
Van Steen, Kristel
author_facet Murphy, Amy
McQueen, Matthew B
Su, Jessica
Kraft, Peter
Lazarus, Ross
Laird, Nan M
Lange, Christoph
Van Steen, Kristel
author_sort Murphy, Amy
collection PubMed
description Due to the recent gains in the availability of single-nucleotide polymorphism data, genome-wide association testing has become feasible. It is hoped that this additional data may confirm the presence of disease susceptibility loci, and identify new genetic determinants of disease. However, the problem of multiple comparisons threatens to diminish any potential gains from this newly available data. To circumvent the multiple comparisons issue, we utilize a recently developed screening technique using family-based association testing. This screening methodology allows for the identification of the most promising single-nucleotide polymorphisms for testing without biasing the nominal significance level of our test statistic. We compare the results of our screening technique across univariate and multivariate family-based association tests. From our analyses, we observe that the screening technique, applied to different settings, is fairly consistent in identifying optimal markers for testing. One of the identified markers, TSC0047225, was significantly associated with both the ttth1 (p = 0.004) and ttth1-ttth4 (p = 0.004) phenotype(s). We find that both univariate- and multivariate-based screening techniques are powerful tools for detecting an association.
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spelling pubmed-18668232007-05-11 Genomic screening in family-based association testing Murphy, Amy McQueen, Matthew B Su, Jessica Kraft, Peter Lazarus, Ross Laird, Nan M Lange, Christoph Van Steen, Kristel BMC Genet Proceedings Due to the recent gains in the availability of single-nucleotide polymorphism data, genome-wide association testing has become feasible. It is hoped that this additional data may confirm the presence of disease susceptibility loci, and identify new genetic determinants of disease. However, the problem of multiple comparisons threatens to diminish any potential gains from this newly available data. To circumvent the multiple comparisons issue, we utilize a recently developed screening technique using family-based association testing. This screening methodology allows for the identification of the most promising single-nucleotide polymorphisms for testing without biasing the nominal significance level of our test statistic. We compare the results of our screening technique across univariate and multivariate family-based association tests. From our analyses, we observe that the screening technique, applied to different settings, is fairly consistent in identifying optimal markers for testing. One of the identified markers, TSC0047225, was significantly associated with both the ttth1 (p = 0.004) and ttth1-ttth4 (p = 0.004) phenotype(s). We find that both univariate- and multivariate-based screening techniques are powerful tools for detecting an association. BioMed Central 2005-12-30 /pmc/articles/PMC1866823/ /pubmed/16451572 http://dx.doi.org/10.1186/1471-2156-6-S1-S115 Text en Copyright © 2005 Murphy et al; licensee BioMed Central Ltd http://creativecommons.org/licenses/by/2.0 This is an open access article distributed under the terms of the Creative Commons Attribution License ( (http://creativecommons.org/licenses/by/2.0) ), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Proceedings
Murphy, Amy
McQueen, Matthew B
Su, Jessica
Kraft, Peter
Lazarus, Ross
Laird, Nan M
Lange, Christoph
Van Steen, Kristel
Genomic screening in family-based association testing
title Genomic screening in family-based association testing
title_full Genomic screening in family-based association testing
title_fullStr Genomic screening in family-based association testing
title_full_unstemmed Genomic screening in family-based association testing
title_short Genomic screening in family-based association testing
title_sort genomic screening in family-based association testing
topic Proceedings
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1866823/
https://www.ncbi.nlm.nih.gov/pubmed/16451572
http://dx.doi.org/10.1186/1471-2156-6-S1-S115
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