Integration of METU-SNP databases via RDF for PI_SNP web service

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2014
Gedikoğlu, Ceyhun
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Single Nucleotide Polymorphism (SNP) is a variation which occurs after a nucleotide mutates between members of a species or paired chromosomes in DNA sequence. SNP data is especially important for identifying genetic variations underlying complex diseases. The need for collection and service of this data under a standard format and globally normalized and structured metadata that houses the structured SNP data is becoming more important while recent advances in high-throughput genotyping technologies are resulting in data accumulation at large scales. This means every new research can result with new data and we need all the new data for our computations. Offline databases can only offer a collection of data but cannot provide access to updated information. So we have built an integrated (iSNP) database that is a regularly updated. This machine curated database that holds SNP and its associated metadata from publicly available databases under a structured standard format can be efficiently utilized within different applications. Also the adaptation of the METU-SNP desktop application(SNP prioritization tool for complex diseases) to the web environment, which is supported by the iSNP database is included as a part of the study. This study will help bioinformaticians from all over the world reach the METU-SNP application with the upto date SNP information used in it via web environment.
Single nucleotide polymorphisms., Genetics, Semantic Web., Semantic integration (Computer systems)., Medical genetics
http://etd.lib.metu.edu.tr/upload/12616830/index.pdf
https://hdl.handle.net/11511/23307
Graduate School of Informatics, Thesis

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Citation Formats
C. Gedikoğlu, “Integration of METU-SNP databases via RDF for PI_SNP web service,” M.S. - Master of Science, Middle East Technical University, 2014.
METU IIS - Integrated Information Service open@metu.edu.tr