¿What will we know when we will have the complete sequence of each of our genomes?

Abstract

The ease of obtaining DNA sequence is reaching levels that were unthinkable a few years ago. After two decades of use of technologies now considered classical, we can now examine with relative ease millions of positions (SNPs or SNVs) in the genome, the genome functional part of the genome (exorne and conserved regions) or the whole genome (more than three billion bases) at affordable prices (about 2,000 euros per genome, which will fall below 1,000 soon). We therefore have a lot of information and a lot more soon, including the complete genome of each of us. The key question, however, is how we understand this information and whether we can make a reasonable use of it. This presentation will review the state of our knowledge of the genome, the contributions of current and prospective technologies and the future technological and scientific challenges. We will mainly discuss the implications (scientific, technological, social, medica!) ofthe massive knowledge ofthe genomic information:

l. The genome of our species. 2. The human genome in perspective: genomes of other species and comparative genomics. 3. The human genome diversity seen with thousands of genomes. 4. The genome ofthe human past: ancient DNA. 5. The individual genome. Ancestrality information and health information.

As an example we will discuss the interest of knowing my own geno me and the implications it has and will have in the future.