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Homozygosity Mapping on Homozygosity Haplotype Analysis to Detect Recessive Disease-Causing Genes from a Small Number of Unrelated, Outbred Patients

https://hiroshima.repo.nii.ac.jp/records/2007940
https://hiroshima.repo.nii.ac.jp/records/2007940
741f035a-87ba-4004-bdc9-24720bcc7acc
名前 / ファイル ライセンス アクション
PLoS-One_6_e25059.pdf PLoS-One_6_e25059.pdf (736.0 KB)
Item type デフォルトアイテムタイプ_(フル)(1)
公開日 2023-03-18
タイトル
タイトル Homozygosity Mapping on Homozygosity Haplotype Analysis to Detect Recessive Disease-Causing Genes from a Small Number of Unrelated, Outbred Patients
言語 en
作成者 Hagiwara, Koichi

× Hagiwara, Koichi

en Hagiwara, Koichi

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Morino, Hiroyuki

× Morino, Hiroyuki

en Morino, Hiroyuki

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Shiihara, Jun

× Shiihara, Jun

en Shiihara, Jun

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Tanaka, Tomoaki

× Tanaka, Tomoaki

en Tanaka, Tomoaki

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Miyazawa, Hitoshi

× Miyazawa, Hitoshi

en Miyazawa, Hitoshi

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Suzuki, Tomoko

× Suzuki, Tomoko

en Suzuki, Tomoko

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Kohda, Masakazu

× Kohda, Masakazu

en Kohda, Masakazu

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Okazaki, Yasushi

× Okazaki, Yasushi

en Okazaki, Yasushi

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Seyama, Kuniaki

× Seyama, Kuniaki

en Seyama, Kuniaki

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Kawakami, Hideshi

× Kawakami, Hideshi

en Kawakami, Hideshi

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アクセス権
アクセス権 open access
アクセス権URI http://purl.org/coar/access_right/c_abf2
権利情報
権利情報 (c) 2011 Hagiwara et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
主題
主題Scheme NDC
主題 490
内容記述
内容記述 Genes involved in disease that are not common are often difficult to identify; a method that pinpoints them from a small number of unrelated patients will be of great help. In order to establish such a method that detects recessive genes identical-by-descent, we modified homozygosity mapping (HM) so that it is constructed on the basis of homozygosity haplotype (HM on HH) analysis. An analysis using 6 unrelated patients with Siiyama-type alpha 1-antitrypsin deficiency, a disease caused by a founder gene, the correct gene locus was pinpointed from data of any 2 patients (length: 1.2-21.8 centimorgans, median: 1.6 centimorgans). For a test population in which these 6 patients and 54 healthy subjects were scrambled, the approach accurately identified these 6 patients and pinpointed the locus to a 1.4-centimorgan fragment. Analyses using synthetic data revealed that the analysis works well for IBD fragment derived from a most recent common ancestor (MRCA) who existed less than 60 generations ago. The analysis is unsuitable for the genes with a frequency in general population more than 0.1. Thus, HM on HH analysis is a powerful technique, applicable to a small number of patients not known to be related, and will accelerate the identification of disease-causing genes for recessive conditions.
言語 en
出版者
出版者 Public Library of Science
言語
言語 eng
資源タイプ
資源タイプ識別子 http://purl.org/coar/resource_type/c_6501
資源タイプ journal article
出版タイプ
出版タイプ VoR
出版タイプResource http://purl.org/coar/version/c_970fb48d4fbd8a85
関連情報
識別子タイプ DOI
関連識別子 10.1371/journal.pone.0025059
関連情報
識別子タイプ DOI
関連識別子 http://dx.doi.org/10.1371/journal.pone.0025059
収録物識別子
収録物識別子タイプ ISSN
収録物識別子 1932-6203
開始ページ
開始ページ e25059
書誌情報 PLoS ONE
PLoS ONE

巻 6, 号 9, p. e25059, 発行日 2011
旧ID 34771
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