Genome-based Diagnostics

This is the topic that takes you to the edge of what Molecular Biology is doing now to the practice of Medicine in concrete terms. What was impossible 40 years ago is now routine. What cost 1.5 billion dollars 30 years ago, now costs 1000. What took 5 days, now takes 2 hours. A test you would not have been allowed to prescribe 15 years ago, will now go unchallenged.

Learning resources

• Study Guide
• Lehninger (4th): DNA BASED INFORMATION TECHNOLOGIES. pgs. 319--323.
• Lehninger (4th): FRET. pgs. 446-448.
• Vanni et al (2020) The Current State of Molecular Testing in the BRAF-Mutated Melanoma Landscape
• Mamotte (2006) Genotyping of Single Nucleotide Substitutions
• Hawkins (2017) Analysis of Human Genetic Variations using DNA sequencing in Basic Science Methods for Clinical Researchers
• Zhu (2020) PCR past, present and future