Accession |
PRJCA001945 |
Title |
Clinical Sequencing in Rare Diseases |
Relevance |
Medical |
Data types |
Whole genome sequencing
|
Organisms |
Homo sapiens
|
Description |
Rare diseases are usually chronically debilitating or even life-threatening with diagnostic and therapeutic challenges in current clinical practice. It has been estimated that 80% of rare diseases are genetic in origin, and thus genome sequencing-based diagnosis offers a promising alternative for rare-disease management. |
Sample scope |
Multiisolate |
Release date |
2020-06-01 |
Publication |
PubMed ID |
Article title |
Journal name |
DOI |
Year |
31852928
|
Diagnostic and clinical utility of whole genome sequencing in a cohort of undiagnosed Chinese families with rare diseases
|
Scientific Reports
|
10.1038/s41598-019-55832-1
|
2019
|
33555039
|
Shared paternal ancestry of Han, Tai-Kadai-speaking, and Austronesian-speaking populations as revealed by the high resolution phylogeny of O1a-M119 and distribution of its sub-lineages within China
|
American Journal of Physical Anthropology
|
10.1002/ajpa.24240
|
2021
|
|
Grants |
Agency |
program |
Grant ID |
Grant title |
Ministry of Science and Technology of the People's Republic of China (MOST)
|
|
N/A
|
Fundamental Research Funds for the Central Universities
|
|
Submitter |
Pengyuan
Liu (pyliu@zju.edu.cn)
|
Organization |
School of Medicine, Zhejiang University |
Submission date |
2019-11-22 |