Population Genetics and Genomics

Coordinators: Martin Kreitman, Lluis Quintana-Murci, Massimo Vergassola

Scientific Advisors: Daniel Hartl, Leonid Kruglyak

The program anticipates rapid development of the subject of Evolutionary and Population Genetics driven by efforts to map single nucleotide polymorphisms and the opportunities resulting from high-throughput techniques of genotyping, re-sequencing and phenotyping. Haplotype reconstruction, recombination hot-spot mapping, ancestry inference, and selective and demographic inference, all present computational and statistical challenges that could potentially benefit from the injection of methods from other fields that may foster the development of novel ideas and approaches. Fruitful interactions will be facilitated by the peculiar status of the field in biology, traditionally featuring a stronger role of theory and models.

Neutral dynamics provides for a general classical framework, of importance both for its rich statistical dynamics and for a benchmark to efficiently identify genomic loci affected by other mechanisms such as natural selection, demography and migrations. Experimental data require a detailed discrimination among these evolutionary scenarios and typically call for multiple-loci genomic methods and the analysis of quantitative traits. Precious information is also extracted from comparative analyses, and it is easily foreseen that their importance will further grow as the cost of sequencing methods steadily declines. Infectious diseases exert strong selection pressures, so that genetic variants influencing human susceptibility to disease have an intimate relationship to selection that can be exploited for the identification of candidate disease loci. Data for human populations naturally couple the field to public-health issues. Associated studies have already provided important clues on genomic loci involved in diseases, and analysis of the diversity and differential response to drugs will be fundamental in developing individual-specific drug treatments.

The goal of the program is to gather world experts in these different disciplines to present their state of the art and to stimulate interactions among them. Key areas to be covered include:

  • Statistical mechanics, inference problems, and algorithms for population genomics
  • What to do with Single Nucleotide Polymorphism and re-sequencing data?
  • Databases (HapMap, Perlegen, etc.), inference and recombination hotspots
  • Structural polymorphisms
  • Signatures of natural selection on genomic scale
  • Comparative Genomics
  • Demographic inference: Origins and migrations of populations
  • The role of human genetic diversity in drug response and human diseases

Questions should be directed to one of the program coordinators.