Next Generation Sequencing Technologies

1. Next Generation Sequencing Technologies Amit Dhingra

2. Forward Genetics How do we answer this question? Typically we start with a phenotype that we are interested in. And we find individuals that have that phenotype and individuals that do not have that phenotype. Then we find a genetic change that is predominantly in the individuals with the phenotype but not in those without the phenotype. This leads us to a hypothesis that genotype X is responsible for phenotype Y. To test this we must now take an organism, make genotype X, and see if we observe phenotype Y. If true, we can hypothesize that changes in related genes may also cause the phenotype of interest, so we repeat the cycle. How do we answer this question? Typically we start with a phenotype that we are interested in. And we find individuals that have that phenotype and individuals that do not have that phenotype. Then we find a genetic change that is predominantly in the individuals with the phenotype but not in those without the phenotype. This leads us to a hypothesis that genotype X is responsible for phenotype Y. To test this we must now take an organism, make genotype X, and see if we observe phenotype Y. If true, we can hypothesize that changes in related genes may also cause the phenotype of interest, so we repeat the cycle.

3. The Cycle of Forward Genetics As someone who is interested in technology development, I am interested in understanding how we can speed up this cycle. So this slide shows what geneticists actually do at each point in the cycle.As someone who is interested in technology development, I am interested in understanding how we can speed up this cycle. So this slide shows what geneticists actually do at each point in the cycle.

4. Bp/US dollar: increases exponentially with time

5. Next Generation Sequencing Technologies

6. Read Length is Not As Important For Resequencing

7. Paired End Reads are Important!