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FARVATX: Family-based rare variant association test for X-linked genes
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Choi, Sungkyoung | - |
dc.contributor.author | Lee, Sungyoung | - |
dc.contributor.author | Qiao, Dandi | - |
dc.contributor.author | Hardin, Megan | - |
dc.contributor.author | Cho, Michael H. | - |
dc.contributor.author | Silverman, Edwin K. | - |
dc.contributor.author | Park, Taesung | - |
dc.contributor.author | Won, Sungho | - |
dc.date.accessioned | 2023-04-19T08:45:46Z | - |
dc.date.available | 2023-04-19T08:45:46Z | - |
dc.date.created | 2018-01-10 | - |
dc.date.issued | 2016-09 | - |
dc.identifier.citation | Genetic Epidemiology, Vol.40 No.6, pp.475-485 | - |
dc.identifier.issn | 0741-0395 | - |
dc.identifier.uri | https://hdl.handle.net/10371/191149 | - |
dc.description.abstract | Although 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.language | 영어 | - |
dc.publisher | John Wiley & Sons Inc. | - |
dc.title | FARVATX: Family-based rare variant association test for X-linked genes | - |
dc.type | Article | - |
dc.identifier.doi | 10.1002/gepi.21979 | - |
dc.citation.journaltitle | Genetic Epidemiology | - |
dc.identifier.wosid | 000386036300004 | - |
dc.identifier.scopusid | 2-s2.0-84981252362 | - |
dc.citation.endpage | 485 | - |
dc.citation.number | 6 | - |
dc.citation.startpage | 475 | - |
dc.citation.volume | 40 | - |
dc.description.isOpenAccess | N | - |
dc.contributor.affiliatedAuthor | Park, Taesung | - |
dc.contributor.affiliatedAuthor | Won, Sungho | - |
dc.type.docType | Article | - |
dc.description.journalClass | 1 | - |
dc.subject.keywordPlus | GENOME-WIDE ASSOCIATION | - |
dc.subject.keywordPlus | CHROMOSOME-INACTIVATION | - |
dc.subject.keywordPlus | MISSING HERITABILITY | - |
dc.subject.keywordPlus | MENTAL-RETARDATION | - |
dc.subject.keywordPlus | SEQUENCING DATA | - |
dc.subject.keywordPlus | NORMAL FEMALES | - |
dc.subject.keywordPlus | INDIVIDUALS | - |
dc.subject.keywordPlus | DISEASES | - |
dc.subject.keywordPlus | RATIOS | - |
dc.subject.keywordPlus | AGE | - |
dc.subject.keywordAuthor | X chromosome | - |
dc.subject.keywordAuthor | X chromosome inactivation | - |
dc.subject.keywordAuthor | extended families | - |
dc.subject.keywordAuthor | rare variants | - |
dc.subject.keywordAuthor | genetic association analysis | - |
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