通过外显子组测序研究巴基斯坦家族性队列中视网膜变性的分子基础

资源简介

通过外显子组测序研究巴基斯坦家族性队列中视网膜变性的分子基础

【数据集背景】

本数据集源站标题为《Investigating the Molecular Basis of Retinal Degeneration in a Familial Cohort of Pakistani Decent by Exome Sequencing》。配套论文《Investigating the Molecular Basis of Retinal Degeneration in a Familial Cohort of Pakistani Decent by Exome Sequencing》发表于 PLOS ONE（2015），DOI：10.1371/journal.pone.0136561。源站首次发布：2015-09-09。

【数据内容】

源站原始描述：Purpose To define the molecular basis of retinal degeneration in consanguineous Pakistani pedigrees with early onset retinal degeneration. Methods A cohort of 277 individuals representing 26 pedigrees from the Punjab province of Pakistan was analyzed. Exomes were captured with commercial kits and sequenced on an Illumina HiSeq 2500. Candidate variants were identified using standard tools and analyzed using exomeSuite to detect all potentially pathogenic changes in genes implicated in retinal deg…

【数据结构与技术规格】

文件数 6 个，合计 606.86 KB。S1_Table.docx：application/vnd.openxmlformats-officedocument.wordprocessingml.document，71.70 KB。S2_Table.docx：application/vnd.openxmlformats-officedocument.wordprocessingml.document，110.55 KB。S3_Table.docx：application/vnd.openxmlformats-officedocument.wordprocessingml.document，58.44 KB。数据集 DOI：10.1371/journal.pone.0136561。

【主题与分类】

源站学科分类：Uncategorised。主题标签：GUCY、Exome Sequencing PurposeTo、exome sequencing、CNGB、2d、2a、lca、nhlbi、pakistani、Illumina HiSeq 2500. Candidate variants。

【适用方向】

源站学科分类标注为 Uncategorised。

【获取与许可】

源站页面：https://plos.figshare.com/articles/dataset/_Investigating_the_Molecular_Basis_of_Retinal_Degeneration_in_a_Familial_Cohort_of_Pakistani_Decent_by_Exome_Sequencing_/1537700

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

规范引用：Maranhao, Bruno; Biswas, Pooja; D. H. Gottsch, Alexander; Navani, Mili; Asif Naeem, Muhammad; Suk, John; et al. (2016). Investigating the Molecular Basis of Retinal Degeneration in a Familial Cohort of Pakistani Decent by Exome Sequencing. PLOS ONE. Dataset

【使用注意】

· 源站最后修改于 2023-05-30，引用时请注意版本时效。