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• Illumina is the world’s largest supplier of genome sequencing.
• Interested in sequencing applications to drug development and diagnostics.
Figure 41: Roche a Swiss pharmaceutical company
Types of Polymorphism Direct to consumer genetic testing
• Companies now offer genetic testing services directly to customers.
• Pharmacogenetic testing is becoming an important aspect of this service.
• Controversy about whether this should be available to anyone or only doctors and about its
accuracy.
Single nucleotide polymorphisms (SNPs)
• Single Nucleotide Polymorphisms are the most common and well-studied form of
variation. Is a DNA sequence variation occurring when a single nucleotide differs between
members of a species. Defined by a population frequency > 1%
