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Genomics is the science of genomes: it is the study of all the genetic material of an organism. In humans, the genome consists of information carried in 23 pairs of chromosomes in the nucleus, as well as mitochondrial DNA. In genomics, both coding and non-coding DNA is sequenced and analyzed. Genomics allows a better understanding of all living things, their evolution, and their diversity. It has a myriad of uses: for example, to build phylogenetic trees, to improve productivity and...
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The genome refers to all of the genetic material in an organism. It can range from a few million base pairs in microbial cells to several billion base pairs in many eukaryotic organisms. Genome assembly refers to the process of taking the DNA sequencing data and putting it all back together in a correct order to create a close representation of the original genome. This is followed by the identification of functional elements on the newly assembled genome, a process called genome annotation.
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Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
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A Knowledge Graph Approach to Elucidate the Role of Organellar Pathways in Disease via Biomedical Reports
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OntoGene web services for biomedical text mining.

Fabio Rinaldi, Simon Clematide, Hernani Marques

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    Summary
    This summary is machine-generated.

    Advanced text mining services are essential for knowledge management and biomedical data enrichment. This study introduces flexible web services using the BioC standard and the OntoGene platform for enhanced data exploration.

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    Area of Science:

    • Biomedical Informatics
    • Computational Biology
    • Knowledge Management

    Background:

    • Text mining is vital for database curation and pharmaceutical data enrichment.
    • Monolithic architectures lack the flexibility required for diverse text mining applications.
    • Web services offer a more adaptable solution for advanced text mining capabilities.

    Purpose of the Study:

    • To present an approach for delivering advanced text mining functionalities via web services.
    • To utilize the BioC standard for efficient textual data interchange.
    • To leverage the robust OntoGene text mining platform within a web service architecture.

    Main Methods:

    • Development of web services for text mining.
    • Implementation of the BioC standard for data exchange.
    • Integration of the OntoGene text mining platform.

    Main Results:

    • The proposed web services provide advanced text mining capabilities.
    • The OntoGene platform, integrated into web services, has demonstrated top performance in evaluation challenges.
    • The approach facilitates flexible and scalable text mining applications.

    Conclusions:

    • Web services offer a flexible architecture for advanced text mining.
    • The BioC standard and OntoGene platform enable powerful biomedical data exploration.
    • This approach enhances knowledge management in the pharmaceutical industry and beyond.