靶向外显子测序在中国家族性高胆固醇血症遗传诊断中的应用

资源简介

靶向外显子测序在中国家族性高胆固醇血症遗传诊断中的应用

【数据集背景】

本数据集源站标题为《Use of Targeted Exome Sequencing in Genetic Diagnosis of Chinese Familial Hypercholesterolemia》。配套论文《Use of Targeted Exome Sequencing in Genetic Diagnosis of Chinese Familial Hypercholesterolemia》发表于 PLoS ONE（2014），DOI：10.1371/journal.pone.0094697。源站首次发布：2014-04-10。

【数据内容】

源站原始描述：Familial hypercholesterolemia is an autosomal dominant inherited disease characterized by elevated plasma low-density lipoprotein cholesterol (LDL-C). It is mainly caused by mutations of the low-density lipoprotein receptor (LDLR) gene. Currently, the methods of whole genome sequencing or whole exome sequencing for screening mutations in familial hypercholesterolemia are not applicable in China due to high cost. We performed targeted exome sequencing of 167 genes implicated in the homozygous phe…

【数据结构与技术规格】

文件数 2 个，合计 73.73 KB。Table_S1.xls：application/vnd.ms-excel，38.40 KB。Table_S2.doc：application/msword，35.33 KB。数据集 DOI：10.1371/journal.pone.0094697。

【主题与分类】

源站学科分类：Biological Sciences。主题标签：Biochemistry、proteins、lipoproteins、Evolutionary biology、population genetics、Genetic polymorphism、genetics、Gene identification and analysis、Genetic screens、Genetic dominance。

【适用方向】

源站学科分类标注为 Biological Sciences。

【获取与许可】

源站页面：https://plos.figshare.com/articles/dataset/_Use_of_Targeted_Exome_Sequencing_in_Genetic_Diagnosis_of_Chinese_Familial_Hypercholesterolemia_/994785

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

规范引用：Wu, Wen-Feng; Sun, Li-Yuan; Pan, Xiao-Dong; Yang, Shi-Wei; Wang, Lv-Ya (2016). Use of Targeted Exome Sequencing in Genetic Diagnosis of Chinese Familial Hypercholesterolemia. 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。