Bardet-Biedl综合征高通量靶向外显子组测序综合分子诊断数据集

资源简介

Bardet-Biedl综合征高通量靶向外显子组测序综合分子诊断数据集

【数据集背景】

本数据集源站标题为《Comprehensive Molecular Diagnosis of Bardet-Biedl Syndrome by High-Throughput Targeted Exome Sequencing》。配套论文《Comprehensive Molecular Diagnosis of Bardet-Biedl Syndrome by High-Throughput Targeted Exome Sequencing》发表于 PLoS ONE（2014），DOI：10.1371/journal.pone.0090599。源站首次发布：2014-03-07。

【数据内容】

源站原始描述：Bardet-Biedl syndrome (BBS) is an autosomal recessive disorder with significant genetic heterogeneity. BBS is linked to mutations in 17 genes, which contain more than 200 coding exons. Currently, BBS is diagnosed by direct DNA sequencing for mutations in these genes, which because of the large genomic screening region is both time-consuming and expensive. In order to develop a practical method for the clinic diagnosis of BBS, we have developed a high-throughput targeted exome sequencing (TES) fo…

【数据结构与技术规格】

文件数 4 个，合计 230.40 KB。Table_S1.doc：application/msword，137.22 KB。Table_S2.doc：application/msword，29.70 KB。Table_S3.doc：application/msword，35.33 KB。数据集 DOI：10.1371/journal.pone.0090599。

【主题与分类】

源站学科分类：Biological Sciences、Medicine。主题标签：Computational biology、genomics、Genome analysis tools、Genetic screens、Genome sequencing、Molecular genetics、genetics、Human genetics、genetic testing、proteomics。

【适用方向】

源站学科分类标注为 Biological Sciences、Medicine。

【获取与许可】

源站页面：https://plos.figshare.com/articles/dataset/_Comprehensive_Molecular_Diagnosis_of_Bardet_Biedl_Syndrome_by_High_Throughput_Targeted_Exome_Sequencing_/955251

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

规范引用：Xing, Dong-Jun; Zhang, Hong-Xing; Huang, Na; Wu, Kun-Chao; Huang, Xiu-Feng; Huang, Fang; et al. (2016). Comprehensive Molecular Diagnosis of Bardet-Biedl Syndrome by High-Throughput Targeted Exome Sequencing. PLOS ONE. Dataset

【使用注意】

· 源站最后修改于 2023-06-07，引用时请注意版本时效。