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FARVATX: Family-Based Rare Variant Association Test for X-Linked Genes

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dc.contributor.authorChoi, Sungkyoung-
dc.contributor.authorLee, Sungyoung-
dc.contributor.authorQiao, Dandi-
dc.contributor.authorHardin, Megan-
dc.contributor.authorCho, Michael H.-
dc.contributor.authorSilverman, Edwin K.-
dc.contributor.authorPark, Taesung-
dc.contributor.authorWon, Sungho-
dc.date.accessioned2021-06-22T16:22:36Z-
dc.date.available2021-06-22T16:22:36Z-
dc.date.created2021-01-21-
dc.date.issued2016-09-
dc.identifier.issn0741-0395-
dc.identifier.urihttps://scholarworks.bwise.kr/erica/handle/2021.sw.erica/13084-
dc.description.abstractAlthough the X chromosome has many genes that are functionally related to human diseases, the complicated biological properties of the X chromosome have prevented efficient genetic association analyses, and only a few significantly associated X-linked variants have been reported for complex traits. For instance, dosage compensation of X-linked genes is often achieved via the inactivation of one allele in each X-linked variant in females; however, some X-linked variants can escape this X chromosome inactivation. Efficient genetic analyses cannot be conducted without prior knowledge about the gene expression process of X-linked variants, and misspecified information can lead to power loss. In this report, we propose new statistical methods for rare X-linked variant genetic association analysis of dichotomous phenotypes with family-based samples. The proposed methods are computationally efficient and can complete X-linked analyses within a few hours. Simulation studies demonstrate the statistical efficiency of the proposed methods, which were then applied to rare-variant association analysis of the X chromosome in chronic obstructive pulmonary disease. Some promising significant X-linked genes were identified, illustrating the practical importance of the proposed methods. (C) 2016 Wiley Periodicals, Inc.-
dc.language영어-
dc.language.isoen-
dc.publisherJohn Wiley & Sons Inc.-
dc.titleFARVATX: Family-Based Rare Variant Association Test for X-Linked Genes-
dc.typeArticle-
dc.contributor.affiliatedAuthorChoi, Sungkyoung-
dc.identifier.doi10.1002/gepi.21979-
dc.identifier.scopusid2-s2.0-84981252362-
dc.identifier.wosid000386036300004-
dc.identifier.bibliographicCitationGenetic Epidemiology, v.40, no.6, pp.475 - 485-
dc.relation.isPartOfGenetic Epidemiology-
dc.citation.titleGenetic Epidemiology-
dc.citation.volume40-
dc.citation.number6-
dc.citation.startPage475-
dc.citation.endPage485-
dc.type.rimsART-
dc.type.docTypeArticle-
dc.description.journalClass1-
dc.description.isOpenAccessN-
dc.description.journalRegisteredClassscie-
dc.description.journalRegisteredClassscopus-
dc.relation.journalResearchAreaGenetics & Heredity-
dc.relation.journalResearchAreaMathematical & Computational Biology-
dc.relation.journalWebOfScienceCategoryGenetics & Heredity-
dc.relation.journalWebOfScienceCategoryMathematical & Computational Biology-
dc.subject.keywordPlusGENOME-WIDE ASSOCIATION-
dc.subject.keywordPlusCHROMOSOME-INACTIVATION-
dc.subject.keywordPlusMISSING HERITABILITY-
dc.subject.keywordPlusMENTAL-RETARDATION-
dc.subject.keywordPlusSEQUENCING DATA-
dc.subject.keywordPlusNORMAL FEMALES-
dc.subject.keywordPlusINDIVIDUALS-
dc.subject.keywordPlusDISEASES-
dc.subject.keywordPlusRATIOS-
dc.subject.keywordPlusAGE-
dc.subject.keywordAuthorX chromosome-
dc.subject.keywordAuthorX chromosome inactivation-
dc.subject.keywordAuthorextended families-
dc.subject.keywordAuthorrare variants-
dc.subject.keywordAuthorgenetic association analysis-
dc.identifier.urlhttps://onlinelibrary.wiley.com/doi/10.1002/gepi.21979-
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ERICA 과학기술융합대학 (ERICA 수리데이터사이언스학과)
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