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Identification of disease genes: example-driven web-based tutorial.

Medha Bhagwat

    Methods in Molecular Biology (Clifton, N.J.)
    |November 21, 2007
    PubMed
    Summary
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    This mini-course demonstrates identifying disease genes using NCBI resources, starting with expressed sequence data. It covers tools like Basic Local Alignment Search Tool and databases for human genetic research.

    Area of Science:

    • Bioinformatics
    • Genomics
    • Medical Genetics

    Background:

    • The National Center for Biotechnology Information (NCBI) offers web-based mini-courses to showcase its resources.
    • Identifying disease-related genes is crucial for understanding and treating genetic disorders.

    Purpose of the Study:

    • To describe the "Identification of Disease Genes" problem-based mini-course.
    • To guide users through a practical workflow for identifying disease genes using NCBI tools.

    Main Methods:

    • Introduction to human genome assembly and key NCBI resources: Basic Local Alignment Search Tool (BLAST), Map Viewer, Single Nucleotide Polymorphism (SNP) database, and Online Mendelian Inheritance in Man (OMIM).
    • Demonstration of practical application using expressed sequence data from patients.

    Related Experiment Videos

  • Case studies focusing on hemochromatosis and sickle cell anemia.

    • Main Results:

    • The mini-course provides a step-by-step approach to disease gene identification.
    • Practical examples illustrate the utility of NCBI resources in genetic research.
    • Includes links to interactive web pages and visual aids (screen images) for enhanced learning.

    Conclusions:

    • NCBI resources offer a powerful and accessible platform for disease gene discovery.
    • The mini-course effectively trains researchers in applying bioinformatics tools for genetic analysis.
    • This educational approach facilitates understanding of complex genomic data for medical applications.