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Maps exist in the broadest range of scale possible, so this session will serve as a broad map of genotyping, with an emphasis on the basics of (1) DNA sequencing and (2) fragment analysis. There will be three speakers in this session, who will present an overview of the technologies and selected applications that are commonly found in core laboratories that study genes and DNA. The DNA-sequencing section will include the preliminary steps of template type and preparation, concentration determination, primer considerations, and sequencing reaction chemistries. There will also be a discussion of instrumentation, emphasizing capillary electrophoresis as it applies to both DNA sequencing and fragment analysis. In addition, the many reasons why researchers sequence DNA will be addressed, with specific examples. Finally, future directions for DNA-sequencing instrumentation will be mentioned, such as genome sequencing and micro-instruments.
Whereas the DNA-sequencing section will be concentrated largely on technology, the fragment-analysis section will focus more on biology. Specifically, there will be a description of genetic variants, such as microsatellites (STRs) and single nucleotide polymorphisms (SNPs), and how they can be used as tools for linkage analysis and association studies to locate genes or chromosomal regions involved in biologically important traits. An overview of the strategies used for biomarker identification and bio-marker selection will be included, such as navigating public databases in search of biomarkers. The platforms used for genotyping, STRs, and SNPs will be described, along with costs, sample size considerations, and typical data analysis. As good maps not only contain the necessary information for reaching your goal, but also contain really useful information about getting there, this session will provide useful tips and recommendations for the core laboratory environment.