On the testing of Hardy-Weinberg proportions and equality of allele frequencies in males and females at biallelic genetic markers

Standard statistical tests for equality of allele frequencies in males and females and tests for Hardy-Weinberg equilibrium are tightly linked by their assumptions. Tests for equality of allele frequencies assume Hardy-Weinberg equilibrium, whereas the usual chi-square or exact test for Hardy-Weinbe...

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Detalles Bibliográficos
Autores: Graffelman, Jan|||0000-0003-3900-0780, Weir, B.S.
Tipo de recurso: artículo
Fecha de publicación:2017
País:España
Institución:Universitat Politècnica de Catalunya (UPC)
Repositorio:UPCommons. Portal del coneixement obert de la UPC
Idioma:inglés
OAI Identifier:oai:upcommons.upc.edu:2117/111053
Acceso en línea:https://hdl.handle.net/2117/111053
https://dx.doi.org/10.1002/gepi.22079
Access Level:acceso abierto
Palabra clave:Genetic markers--Statistical methods
Akaike's information criterion
Exact test
Inbreeding coefficient
Likelihood ratio test
Ternary diagram
Estadística matemàtica
Marcadors genètics -- Mètodes estadístics
Àrees temàtiques de la UPC::Matemàtiques i estadística::Estadística aplicada
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spelling On the testing of Hardy-Weinberg proportions and equality of allele frequencies in males and females at biallelic genetic markersGraffelman, Jan|||0000-0003-3900-0780Weir, B.S.Genetic markers--Statistical methodsAkaike's information criterionExact testInbreeding coefficientLikelihood ratio testTernary diagramEstadística matemàticaMarcadors genètics -- Mètodes estadísticsÀrees temàtiques de la UPC::Matemàtiques i estadística::Estadística aplicadaStandard statistical tests for equality of allele frequencies in males and females and tests for Hardy-Weinberg equilibrium are tightly linked by their assumptions. Tests for equality of allele frequencies assume Hardy-Weinberg equilibrium, whereas the usual chi-square or exact test for Hardy-Weinberg equilibrium assume equality of allele frequencies in the sexes. In this paper, we propose ways to break this interdependence in assumptions of the two tests by proposing an omnibus exact test that can test both hypotheses jointly, as well as a likelihood ratio approach that permits these phenomena to be tested both jointly and separately. The tests are illustrated with data from the 1000 Genomes project.Peer Reviewed20182018-02-0120172017-11-22journal articlehttp://purl.org/coar/resource_type/c_6501AMhttp://purl.org/coar/version/c_ab4af688f83e57aainfo:eu-repo/semantics/articleapplication/pdfhttps://hdl.handle.net/2117/111053https://dx.doi.org/10.1002/gepi.2207929071737reponame:UPCommons. Portal del coneixement obert de la UPCinstname:Universitat Politècnica de Catalunya (UPC)InglésengMinisterio de Economía y Competitividad http://doi.org/10.13039/501100003329 MTM2015-65016-C2-2-R TRANSFERENCIA DE METODOS DE DATOS COMPOSICIONALES A LAS CIENCIAS APLICADAS Y LA TECNOLOGIAopen accesshttp://purl.org/coar/access_right/c_abf2Attribution-NonCommercial-NoDerivs 3.0 Spainhttp://creativecommons.org/licenses/by-nc-nd/3.0/es/info:eu-repo/semantics/openAccessoai:upcommons.upc.edu:2117/1110532026-05-27T15:37:01Z
dc.title.none.fl_str_mv On the testing of Hardy-Weinberg proportions and equality of allele frequencies in males and females at biallelic genetic markers
title On the testing of Hardy-Weinberg proportions and equality of allele frequencies in males and females at biallelic genetic markers
spellingShingle On the testing of Hardy-Weinberg proportions and equality of allele frequencies in males and females at biallelic genetic markers
Graffelman, Jan|||0000-0003-3900-0780
Genetic markers--Statistical methods
Akaike's information criterion
Exact test
Inbreeding coefficient
Likelihood ratio test
Ternary diagram
Estadística matemàtica
Marcadors genètics -- Mètodes estadístics
Àrees temàtiques de la UPC::Matemàtiques i estadística::Estadística aplicada
title_short On the testing of Hardy-Weinberg proportions and equality of allele frequencies in males and females at biallelic genetic markers
title_full On the testing of Hardy-Weinberg proportions and equality of allele frequencies in males and females at biallelic genetic markers
title_fullStr On the testing of Hardy-Weinberg proportions and equality of allele frequencies in males and females at biallelic genetic markers
title_full_unstemmed On the testing of Hardy-Weinberg proportions and equality of allele frequencies in males and females at biallelic genetic markers
title_sort On the testing of Hardy-Weinberg proportions and equality of allele frequencies in males and females at biallelic genetic markers
dc.creator.none.fl_str_mv Graffelman, Jan|||0000-0003-3900-0780
Weir, B.S.
author Graffelman, Jan|||0000-0003-3900-0780
author_facet Graffelman, Jan|||0000-0003-3900-0780
Weir, B.S.
author_role author
author2 Weir, B.S.
author2_role author
dc.subject.none.fl_str_mv Genetic markers--Statistical methods
Akaike's information criterion
Exact test
Inbreeding coefficient
Likelihood ratio test
Ternary diagram
Estadística matemàtica
Marcadors genètics -- Mètodes estadístics
Àrees temàtiques de la UPC::Matemàtiques i estadística::Estadística aplicada
topic Genetic markers--Statistical methods
Akaike's information criterion
Exact test
Inbreeding coefficient
Likelihood ratio test
Ternary diagram
Estadística matemàtica
Marcadors genètics -- Mètodes estadístics
Àrees temàtiques de la UPC::Matemàtiques i estadística::Estadística aplicada
description Standard statistical tests for equality of allele frequencies in males and females and tests for Hardy-Weinberg equilibrium are tightly linked by their assumptions. Tests for equality of allele frequencies assume Hardy-Weinberg equilibrium, whereas the usual chi-square or exact test for Hardy-Weinberg equilibrium assume equality of allele frequencies in the sexes. In this paper, we propose ways to break this interdependence in assumptions of the two tests by proposing an omnibus exact test that can test both hypotheses jointly, as well as a likelihood ratio approach that permits these phenomena to be tested both jointly and separately. The tests are illustrated with data from the 1000 Genomes project.
publishDate 2017
dc.date.none.fl_str_mv 2017
2017-11-22
2018
2018-02-01
dc.type.none.fl_str_mv journal article
http://purl.org/coar/resource_type/c_6501
AM
http://purl.org/coar/version/c_ab4af688f83e57aa
dc.type.openaire.fl_str_mv info:eu-repo/semantics/article
format article
dc.identifier.none.fl_str_mv https://hdl.handle.net/2117/111053
https://dx.doi.org/10.1002/gepi.22079
29071737
url https://hdl.handle.net/2117/111053
https://dx.doi.org/10.1002/gepi.22079
identifier_str_mv 29071737
dc.language.none.fl_str_mv Inglés
eng
language_invalid_str_mv Inglés
language eng
dc.relation.none.fl_str_mv Ministerio de Economía y Competitividad http://doi.org/10.13039/501100003329 MTM2015-65016-C2-2-R TRANSFERENCIA DE METODOS DE DATOS COMPOSICIONALES A LAS CIENCIAS APLICADAS Y LA TECNOLOGIA
dc.rights.none.fl_str_mv open access
http://purl.org/coar/access_right/c_abf2
Attribution-NonCommercial-NoDerivs 3.0 Spain
http://creativecommons.org/licenses/by-nc-nd/3.0/es/
dc.rights.openaire.fl_str_mv info:eu-repo/semantics/openAccess
rights_invalid_str_mv open access
http://purl.org/coar/access_right/c_abf2
Attribution-NonCommercial-NoDerivs 3.0 Spain
http://creativecommons.org/licenses/by-nc-nd/3.0/es/
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.source.none.fl_str_mv reponame:UPCommons. Portal del coneixement obert de la UPC
instname:Universitat Politècnica de Catalunya (UPC)
instname_str Universitat Politècnica de Catalunya (UPC)
reponame_str UPCommons. Portal del coneixement obert de la UPC
collection UPCommons. Portal del coneixement obert de la UPC
repository.name.fl_str_mv
repository.mail.fl_str_mv
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score 15,300719

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