DMMC Course POPULATION GENETICS & SNP ANALYSIS

Durkan Lecture Theatre, Institute of Molecular Medicine, TCD, St James's Hospital

1610-1700 Thursday 7 June 2007

Diagnostic Applications of SNP typing
Dr David Burton (National Centre for Medical Genetics & UCD)

SNP typing plays a central role in diagnostic molecular genetics, as most disease-causing mutations are point mutations, which may be regarded as SNPs. A variety of technologies has been developed for SNP typing, with highly-multiplexed systems now starting to dominate. Such systems enable large numbers of alleles to be typed simultaneously, but bring their own problems of assay validation, data interpretation and information overload. Focus is now shifting from rare diseases to common disorders with an inherited component, and to pharmacogenetic applications of SNP typing. This lecture will review the latest SNP typing technologies in diagnostic use, along with their diagnostic applications. Solutions to the problems of multiplex typing will also be discussed.