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Establishment of Kawasaki disease database based on metadata standard

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 purp...

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Autores principales: Park, Yu Rang, Kim, Jae-Jung, Yoon, Young Jo, Yoon, Young-Kwang, Koo, Ha Yeong, Hong, Young Mi, Jang, Gi Young, Shin, Soo-Yong, Lee, Jong-Keuk
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4962667/
https://www.ncbi.nlm.nih.gov/pubmed/27630202
http://dx.doi.org/10.1093/database/baw109
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author Park, Yu Rang
Kim, Jae-Jung
Yoon, Young Jo
Yoon, Young-Kwang
Koo, Ha Yeong
Hong, Young Mi
Jang, Gi Young
Shin, Soo-Yong
Lee, Jong-Keuk
author_facet Park, Yu Rang
Kim, Jae-Jung
Yoon, Young Jo
Yoon, Young-Kwang
Koo, Ha Yeong
Hong, Young Mi
Jang, Gi Young
Shin, Soo-Yong
Lee, Jong-Keuk
author_sort Park, Yu Rang
collection PubMed
description 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. Database URL: http://www.kawasakidisease.kr
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spelling pubmed-49626672016-07-28 Establishment of Kawasaki disease database based on metadata standard Park, Yu Rang Kim, Jae-Jung Yoon, Young Jo Yoon, Young-Kwang Koo, Ha Yeong Hong, Young Mi Jang, Gi Young Shin, Soo-Yong Lee, Jong-Keuk Database (Oxford) Original Article 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. Database URL: http://www.kawasakidisease.kr Oxford University Press 2016-07-26 /pmc/articles/PMC4962667/ /pubmed/27630202 http://dx.doi.org/10.1093/database/baw109 Text en © The Author(s) 2016. Published by Oxford University Press. http://creativecommons.org/licenses/by/4.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Original Article
Park, Yu Rang
Kim, Jae-Jung
Yoon, Young Jo
Yoon, Young-Kwang
Koo, Ha Yeong
Hong, Young Mi
Jang, Gi Young
Shin, Soo-Yong
Lee, Jong-Keuk
Establishment of Kawasaki disease database based on metadata standard
title Establishment of Kawasaki disease database based on metadata standard
title_full Establishment of Kawasaki disease database based on metadata standard
title_fullStr Establishment of Kawasaki disease database based on metadata standard
title_full_unstemmed Establishment of Kawasaki disease database based on metadata standard
title_short Establishment of Kawasaki disease database based on metadata standard
title_sort establishment of kawasaki disease database based on metadata standard
topic Original Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4962667/
https://www.ncbi.nlm.nih.gov/pubmed/27630202
http://dx.doi.org/10.1093/database/baw109
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