Genome-wide prediction of disease-relevant genes and variants

To decipher the semantics of the human genome, insights from classical, molecular and evolutionary genetics have to be integrated. For this purpose, bioinformatics methods need to be combined with genetic analyses. From the point of view of human genetics, this article reviews recent approaches to dissecting recombination patterns of the human genome, mining biomedical knowledge from large-scale datasets and analyzing intra- and interspecies diversity. Advancements are illustrated by biomedical examples that are likely to stimulate further investigations.