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A lesson not learned: allele misassignment

Misassigned alleles can annihilate efforts to control quality in otherwise well-designed genetic association analyses. To date, the issue remains underreported, as is exemplified by studies of a diallelic DRD2 missense variant in schizophrenia. For this variant, allele frequency data have been eithe...

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Autor principal: Sand, Philipp G
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2007
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2231368/
https://www.ncbi.nlm.nih.gov/pubmed/18154681
http://dx.doi.org/10.1186/1744-9081-3-65
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author Sand, Philipp G
author_facet Sand, Philipp G
author_sort Sand, Philipp G
collection PubMed
description Misassigned alleles can annihilate efforts to control quality in otherwise well-designed genetic association analyses. To date, the issue remains underreported, as is exemplified by studies of a diallelic DRD2 missense variant in schizophrenia. For this variant, allele frequency data have been either misassigned, or incorrectly cited on four consecutive occasions. Contrary to conjecture, low heterozygosity has not guarded against the error with regard to rs1801028, a SNP that features a canonical base pair transversion, G:C. Measures are discussed that may help to identify misassigned alleles, and to avoid related perils pending more systematic investigation of this confounder in genotype-phenotype associations.
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spelling pubmed-22313682008-02-06 A lesson not learned: allele misassignment Sand, Philipp G Behav Brain Funct Commentary Misassigned alleles can annihilate efforts to control quality in otherwise well-designed genetic association analyses. To date, the issue remains underreported, as is exemplified by studies of a diallelic DRD2 missense variant in schizophrenia. For this variant, allele frequency data have been either misassigned, or incorrectly cited on four consecutive occasions. Contrary to conjecture, low heterozygosity has not guarded against the error with regard to rs1801028, a SNP that features a canonical base pair transversion, G:C. Measures are discussed that may help to identify misassigned alleles, and to avoid related perils pending more systematic investigation of this confounder in genotype-phenotype associations. BioMed Central 2007-12-21 /pmc/articles/PMC2231368/ /pubmed/18154681 http://dx.doi.org/10.1186/1744-9081-3-65 Text en Copyright © 2007 Sand; 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 Commentary
Sand, Philipp G
A lesson not learned: allele misassignment
title A lesson not learned: allele misassignment
title_full A lesson not learned: allele misassignment
title_fullStr A lesson not learned: allele misassignment
title_full_unstemmed A lesson not learned: allele misassignment
title_short A lesson not learned: allele misassignment
title_sort lesson not learned: allele misassignment
topic Commentary
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2231368/
https://www.ncbi.nlm.nih.gov/pubmed/18154681
http://dx.doi.org/10.1186/1744-9081-3-65
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