法洛四联症和/或肺动脉闭锁340例无关成人罕见拷贝数变异负荷

资源简介

法洛四联症和/或肺动脉闭锁340例无关成人罕见拷贝数变异负荷

【数据集背景】

本数据集源站标题为《Rare CNV burden in 340 unrelated adults with tetralogy of Fallot and/or pulmonary atresia.》。配套论文《Rare Copy Number Variations in Adults with Tetralogy of Fallot Implicate Novel Risk Gene Pathways》发表于 PLoS Genetics（2012），DOI：10.1371/journal.pgen.1002843。源站首次发布：2012-08-09。

【数据内容】

源站原始描述：aRare autosomal CNVs>10 kb and 6.5 Mb in a secondary analysis did not change the overall results (data not shown). Note that the above results also do not include 49 subjects of European ancestry with typical 1.5 to 3 Mb 22q11.2 deletions in the TOF group (all syndromic); see text for details on the results if these subjects had been included. bFisher''s exact test

【数据结构与技术规格】

文件数 1 个，合计 9.73 KB。Table_1.xls：application/vnd.ms-excel，9.73 KB。数据集 DOI：10.1371/journal.pgen.1002843.t001。

【主题与分类】

源站学科分类：Genetics。主题标签：cnv、340、unrelated、adults、tetralogy、fallot、pulmonary。

【适用方向】

源站学科分类标注为 Genetics。

【获取与许可】

源站页面：https://plos.figshare.com/articles/dataset/_Rare_CNV_burden_in_340_unrelated_adults_with_tetralogy_of_Fallot_and_or_pulmonary_atresia_/264208

使用许可：CC BY 4.0（https://creativecommons.org/licenses/by/4.0/）。

规范引用：K. Silversides, Candice; C. Lionel, Anath; Costain, Gregory; Merico, Daniele; Migita, Ohsuke; Liu, Ben; et al. (2015). Rare CNV burden in 340 unrelated adults with tetralogy of Fallot and/or pulmonary atresia.. PLOS Genetics. Dataset

【使用注意】

· 源站最后修改于 2023-06-04，引用时请注意版本时效。