The shift from laboratory bench to the desktop computer has impacted all levels of life science research. The first part of the tutorial provides an introduction to high throughput genomic sequencing and demonstrates some of the tools used by sequencing laboratories for data management. Sophisticated algorithms like phred and phrap, once used only in genome centers to manage and assemble sequence data, are now used by a wide variety of researchers, from technicians in core laboratories, to patent lawyers and biology students. Phred's ability to evaluate the quality of an individual DNA sequence is destined to become increasingly important in FDA regulation of gene therapy vectors, DNA vaccines, genotyping, and pharmacogenomics.
The second part of this tutorial demonstrates questions that might be asked in researching a single genetic disease and the way these questions might be answered using a variety of bioinformatics tools. An overview will be provided of how one might search for specific sequences within the human genome, identify single nucleotide polymorphisms in a DNA sequence, locate information in a genetic database, and determine where a mutation is situated within the three dimensional structure of a protein. Lastly, we will discuss why that mutation might have an effect on an enzyme's activity.
Information covered in this tutorial will illustrate the power of bioinformatics to investors, entrepreneurs, and researchers new to this area. Programmers will benefit from seeing how biologists use the algorithms. Materials from this tutorial will be available on-line for educators to use with their students.