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Published on: May 22, 2018
SNPLims: a data management system for genome wide association studies.
Alessandro Orro1, Guia Guffanti, Erika Salvi
1Consorzio Interuniversitario Lombardo per l'Elaborazione Automatica, Via Sanzio Raffaello 4, 20090 Segrate (MI), Italy. alessandro.orro@itb.cnr.it
A new information system manages large-scale SNP genotype data for disease research. This system aids in identifying statistically relevant genetic markers for disease association studies.
Area of Science:
- Genomics
- Bioinformatics
- Genetic Epidemiology
Background:
- High-density genetic maps require robust data management systems.
- Whole genome genotyping generates vast amounts of genetic data.
- Efficient management is crucial for analyzing disease-related genetic variations.
Purpose of the Study:
- To develop an information system for managing SNP genotype data.
- To facilitate the analysis of large-scale genetic datasets.
- To support the identification of genetic markers associated with diseases.
Main Methods:
- Developed a relational database system for SNP genotype data storage and management.
- Enabled data import and export in formats compatible with genetic analysis programs.
- Integrated functionality for importing association study results and visualizing findings.
Main Results:
- The system efficiently stores and manages large volumes of SNP genotype data.
- Allows rapid identification and annotation of statistically relevant polymorphisms.
- Supports data visualization and export for further analysis.
Conclusions:
- The infrastructure effectively manages extensive genotype and phenotype data.
- Enables data quality control and common screening analyses.
- Facilitates the identification of candidate genes for diseases.
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