| 项目编号 |
PRJCA060409 |
| 项目标题 |
Tissue-specific gene dosage disruption and pathogenic structural variant discovery in rare disease cohorts |
| 涉及领域 |
Medical |
| 数据类型 |
Whole genome sequencing
Phenotype or Genotype
Variation
|
| 物种名称 |
|
| 描述信息 |
This project contains whole-genome sequencing data from patients with inherited retinal disease and hereditary ataxia. The data were used to investigate tissue-specific gene dosage disruption caused by structural variants and to support pathogenic structural variant discovery using the PathoSV framework. |
| 样品范围 |
Multiisolate |
| 发布日期 |
2026-03-20 |
| 项目资金来源 |
| 机构 |
项目类型 |
授权项目ID |
授权项目名称 |
| Ministry of Science and Technology of the People's Republic of China (MOST)
|
National Key Technologies R&D Program
|
2021YFA0805200
|
Genetic Basis and Pathogenic Mechanisms of Hereditary Ataxia-Related Movement Disorders
|
|
|
| 提交者 |
Xin
Li (lixin@sinh.ac.cn)
|
| 提交单位 |
Shanghai Institute of Nutrition and Health, Chinese Academy of Sciences |
| 提交日期 |
2026-03-20 |
