콘텐츠 바로가기
로그인
컨텐츠

Category Open

Resources

tutorial

Collection of research papers and materials on development issues

home

Resources
Industry and Technology IT
Social Development Health

Print

Development of Korean rare disease knowledge base

Related Document
Frame of Image
  • Development of Korean rare disease knowledge base
  • Seo, Heewon; Kim, Dokyoon; Chae, Jong-Hee; Kang, Hee Gyung; Lim, Byung Chan; Cheong, Hae Il; Kim, Ju Han
  • The Korean Society of Medical Informatics


link
Title Development of Korean rare disease knowledge base
Similar Titles
Material Type Articles
Author(English)

Seo, Heewon; Kim, Dokyoon; Chae, Jong-Hee; Kang, Hee Gyung; Lim, Byung Chan; Cheong, Hae Il; Kim, Ju Han

Publisher

[Seoul, Korea]:The Korean Society of Medical Informatics

Date 2012-12
Journal Title; Vol./Issue Healthcare Informatics Research:vol. 18(no. 4)
Pages 7
Subject Country South Korea(Asia and Pacific)
Language English
File Type Link
Subject Industry and Technology < IT
Social Development < Health
Holding The Korean Society of Medical Informatics

Abstract

Objectives: Rare disease research requires a broad range of disease-related information for the discovery of causes of genetic disorders that are maladies caused by abnormalities in genes or chromosomes. A rarity in cases makes it difficult for researchers to elucidate definite inception. This knowledge base will be a major resource not only for clinicians, but also for the general public, who are unable to find consistent information on rare diseases in a single location. Methods: We design a compact database schema for faster querying; its structure is optimized to store heterogeneous data sources. Then, clinicians at Seoul National University Hospital (SNUH) review and revise those resources. Additionally, we integrated other sources to capture genomic resources and clinical trials in detail on the Korean Rare Disease Knowledge base (KRDK). (The rest omitted)