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

Project Data

Resource name Description