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- Homo sapiens
- person_outline openSNP
Publication for openSNP
UGT1A1 gene linkage analysis: application of polymorphic markers rs4148326/rs4124874 in the Iranian population
[…] An in silico analysis was performed on the poly-morphic markers in the UGT1A1 gene region, which were reported in databases dbSNP, ALFRED, UCSC Genome Browser, SNPper and openSNP. The mar-kers with high minor allele frequency (MAF) and heterozygosity including rs4124874 and rs4148326 were selected. MAF and heterozygosity rate are two important characteristics of geneti […]
Translational Bioinformatics: Past, Present, and Future
[…] er raw genomic data and to use information from other websites to interpret the results, including Promethease (http://www.snpedia.com/index.php/Promethease), Geneticgenie (http://geneticgenie.org/), openSNP (https://opensnp.org/), and Interpretome (http://interpretome.com/) for health-related associations.Another important question raised by DTC genetic testing include whether the consumers are r […]
Pharmacogenomic knowledge representation, reasoning and genome based clinical decision support based on OWL 2 DL ontologies
[…] (VCF) files , and two-dimensional barcodes representing pharmacogenomic data as Medicine Safety Codes . We obtained publicly available patient data in the form of genetic 23andMe V3 profiles from openSNP.org , manually altering some of the SNP data in order to create a unique, virtual profile, and converting the SNP data into OWL axioms describing the genetic profile of a virtual patient.Fig […]
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