Human Genome Sequence and Variation

The knowledge of the content of the individual human genomes has become a sine qua non for the understanding of the relationship between genotypic and phenotypic variability. The genome sequence and the ongoing functional annotation require both comparative genome analysis among different species and experimental validation. Extensive common and rare genomic variability exists that strongly influences genome function among individuals, partially determining disease susceptibility. S.E. Antonarakis ( ) Department of Genetic Medicine and Development , University of Geneva Medical School, and University Hospitals of Geneva , 1 rue Michel-Servet , 1211 Geneva , Switzerland e-mail: [email protected]