1. Genome characterization in the post-HGP era Haixu Tang School of Informatics

2. Mutual beneficial for HGP and advancement of DNA sequencing Sequencing cost reduced 50-100 fold over a decade of HGP. HGP cost over $2.5 billion; Now should cost only ~$50M;

3. NIH $1000 genome goals In 5 years: $100,000 genome (to sequence the genome of a human individual) In 10 years: $1000 genome

4. X Prize Foundation An offer of $10 million dollar prize to any private team who “can build a device and use it to sequence 100 human genomes within 10 days or less, …, and at a demonstrated cost of no more than $10,000 per genome”

5. Why sequence more genomes? The genome of one person is approximately 99.9% identical to another, genome resequencing is to determine the ~0.1% variations between a target genome and the reference human genome. Personalized medicine –Disease diagnosis –Therapy –Eventually sequence all individual’s genome

6. Genome characterization in the post-HGP era Making use of the available reference genome sequence Both easier and more difficult –The reference genome can provide valuable information for genome characterization; –The needs of fast genome sequencing, and the genome characterization beyond sequencing may pose new challenges for both experimental and computational biologists

7. New challenges Genome resequencing requires comparative assembly Haplotyping instead of genotyping Identification of large scale genome variations Epigenomics: genetic variations beyond genome sequences

8. Future genomics Identify a problem you can envision that the informatics methodologies you learned from this class can address.