| 项目编号 |
PRJCA006393 |
| 项目标题 |
BAVM |
| 涉及领域 |
Medical |
| 数据类型 |
Exome
Targeted Locus (Loci)
Transcriptome or Gene expression
Single cell sequencing
|
| 物种名称 |
Homo sapiens
|
| 描述信息 |
We established a comprehensive bAVM dataset from 269 patients, by performing single-cell sequencing of 17 bAVM lesions, whole-exome sequencing of germline DNA from 60 case-unaffected-parental trios, and genomic/transcriptomic sequencing of 231 bAVM lesions. In addition, we also performed amplicon-sequencing in 179 bAVM nidus and 106 blood, as well as ddPCR on 61 bAVM tissues and 30 blood samples. |
| 样品范围 |
Multiisolate |
| 发布日期 |
2021-09-02 |
| 出版信息 |
| PubMed ID |
文章标题 |
杂志名称 |
Doi |
发表年份 |
| 34530633
|
De Novo Germline and Somatic Variants Convergently Promote Endothelial-to-Mesenchymal Transition in Simplex Brain Arteriovenous Malformation
|
Circulation Research
|
10.1161/CIRCRESAHA.121.319004
|
2021
|
|
|
| 项目资金来源 |
| 机构 |
项目类型 |
授权项目ID |
授权项目名称 |
| Beijing municipal health commission
|
|
N/A
|
Genomics Platform Construction for Chinese Major Brain Disease AVM
|
|
|
| 提交者 |
Yong
Cao (caoyong6@hotmail.com)
|
| 提交单位 |
Beijing Tiantan Hospital, Capital Medical University |
| 提交日期 |
2021-09-02 |
