两个肢带型肌营养不良症家族的外显子分析：已识别的突变与遇到的挑战

资源简介

两个肢带型肌营养不良症家族的外显子分析：已识别的突变与遇到的挑战

【数据集背景】

本数据集源站标题为《Exome Analysis of Two Limb-Girdle Muscular Dystrophy Families: Mutations Identified and Challenges Encountered》。配套论文《Exome Analysis of Two Limb-Girdle Muscular Dystrophy Families: Mutations Identified and Challenges Encountered》发表于 PLoS ONE（2012），DOI：10.1371/journal.pone.0048864。源站首次发布：2012-11-14。

【数据内容】

源站原始描述：The molecular diagnosis of muscle disorders is challenging: genetic heterogeneity (>100 causal genes for skeletal and cardiac muscle disease) precludes exhaustive clinical testing, prioritizing sequencing of specific genes is difficult due to the similarity of clinical presentation, and the number of variants returned through exome sequencing can make the identification of the disease-causing variant difficult. We have filtered variants found through exome sequencing by prioritizing variants in…

【数据结构与技术规格】

文件数 4 个，合计 108.37 KB。数据集 DOI：10.1371/journal.pone.0048864。

【主题与分类】

源站学科分类：Biological Sciences、Genetics。主题标签：exome、limb-girdle、muscular、dystrophy、mutations、identified、challenges、encountered。

【适用方向】

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

【获取与许可】

源站页面：https://plos.figshare.com/articles/dataset/Exome_Analysis_of_Two_Limb_Girdle_Muscular_Dystrophy_Families_Mutations_Identified_and_Challenges_Encountered__/117440

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

规范引用：K. McDonald, Kristin; Stajich, Jeffrey; Blach, Colette; E. Ashley-Koch, Allison; A. Hauser, Michael (2016). Exome Analysis of Two Limb-Girdle Muscular Dystrophy Families: Mutations Identified and Challenges Encountered. PLOS ONE. 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。