基于人群外显子序列的全球罕见遗传性疾病携带率

资源简介

基于人群外显子序列的全球罕见遗传性疾病携带率

【数据集背景】

本数据集源站标题为《Global Carrier Rates of Rare Inherited Disorders Using Population Exome Sequences》。配套论文《Global Carrier Rates of Rare Inherited Disorders Using Population Exome Sequences》发表于 PLOS ONE（2016），DOI：10.1371/journal.pone.0155552。源站首次发布：2016-05-24。

【数据内容】

源站原始描述：Exome sequencing has revealed the causative mutations behind numerous rare, inherited disorders, but it is challenging to find reliable epidemiological values for rare disorders. Here, I provide a genetic epidemiology method to identify the causative mutations behind rare, inherited disorders using two population exome sequences (1000 Genomes and NHLBI). I created global maps of carrier rate distribution for 18 recessive disorders in 16 diverse ethnic populations. Out of a total of 161 mutations…

【数据结构与技术规格】

文件数 4 个，合计 5.10 MB。S1 Fig.PDF：application/pdf，4.84 MB。S1 Table.PDF：application/pdf，41.34 KB。S2 Table.PDF：application/pdf，170.30 KB。数据集 DOI：10.1371/journal.pone.0155552。

【主题与分类】

源站学科分类：Microbiology、Genetics、Neuroscience、Biotechnology、Ecology、Biological Sciences not elsewhere classified。主题标签：exome studies、Global Carrier Rates、161 mutations、cell anemia、carrier patterns、SCA、Rare Inherited Disorders、Similar modeling methods、prevalence survey、NHLBI。

【适用方向】

源站学科分类标注为 Microbiology、Genetics、Neuroscience、Biotechnology、Ecology、Biological Sciences not elsewhere classified。

【获取与许可】

源站页面：https://plos.figshare.com/articles/dataset/Global_Carrier_Rates_of_Rare_Inherited_Disorders_Using_Population_Exome_Sequences/3404257

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

规范引用：Fujikura, Kohei (2016). Global Carrier Rates of Rare Inherited Disorders Using Population Exome Sequences. PLOS ONE. Dataset

【使用注意】

· 源站最后修改于 2023-05-31，引用时请注意版本时效。