Integrated Database for Studying SNPs and Diseases
Author Information
Author(s): Yang Jin Ok, Hwang Sohyun, Oh Jeongsu, Bhak Jong, Sohn Tae-Kwon
Primary Institution: Korean BioInformation Center, Korea Research Institute of Bioscience and Biotechnology (KRIBB)
Hypothesis
The study aims to develop an integrated database-pipeline system to analyze the correlation between single nucleotide polymorphisms (SNPs) and diseases.
Conclusion
The integrated database-pipeline system effectively captures relationships between SNPs and disease-causing genes, providing valuable resources for disease-association studies.
Supporting Evidence
- The database contains 14,674 SNP records and 109,715 gene records associated with human diseases.
- The system allows researchers to retrieve integrated information on diseases, SNPs, and amino acid changes.
- The integrated database-pipeline system can economically facilitate disease-association studies.
Takeaway
The researchers created a special database that helps scientists understand how tiny changes in our genes can be linked to diseases.
Methodology
The system was developed by integrating data from 13 public and private databases, unifying disease terms and gene names, and providing a web interface for querying information.
Limitations
The integration of various databases requires manual updates and may not cover all genetic variations.
Digital Object Identifier (DOI)
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