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Establishment of Kawasaki disease database based on metadata standard

Title
Establishment of Kawasaki disease database based on metadata standard
Authors
Park, Yu RangKim, Jae-JungYoon, Young JoYoon, Young-KwangKoo, Ha YeongHong, Young MiJang, Gi YoungShin, Soo-YongLee, Jong-KeukKorean Kawasaki Dis Genetics
Ewha Authors
홍영미
SCOPUS Author ID
홍영미scopus
Issue Date
2016
Journal Title
DATABASE-THE JOURNAL OF BIOLOGICAL DATABASES AND CURATION
ISSN
1758-0463JCR Link
Publisher
OXFORD UNIV PRESS
Indexed
SCIE; SCOPUS WOS
Abstract
Kawasaki disease (KD) is a rare disease that occurs predominantly in infants and young children. To identify KD susceptibility genes and to develop a diagnostic test, a specific therapy, or prevention method, collecting KD patients' clinical and genomic data is one of the major issues. For this purpose, Kawasaki Disease Database (KDD) was developed based on the efforts of Korean Kawasaki Disease Genetics Consortium (KKDGC). KDD is a collection of 1292 clinical data and genomic samples of 1283 patients from 13 KKDGC-participating hospitals. Each sample contains the relevant clinical data, genomic DNA and plasma samples isolated from patients' blood, omics data and KD-associated genotype data. Clinical data was collected and saved using the common data elements based on the ISO/IEC 11179 metadata standard. Two genome-wide association study data of total 482 samples and whole exome sequencing data of 12 samples were also collected. In addition, KDD includes the rare cases of KD (16 cases with family history, 46 cases with recurrence, 119 cases with intravenous immunoglobulin non-responsiveness, and 52 cases with coronary artery aneurysm). As the first public database for KD, KDD can significantly facilitate KD studies. All data in KDD can be searchable and downloadable. KDD was implemented in PHP, MySQL and Apache, with all major browsers supported.
DOI
10.1093/database/baw109
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의학전문대학원 > 의학과 > Journal papers
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