A key challenge in human disease genomics is establishing appropriate resources to elucidate the underlying biological causes of polymorphisms that are associated with disease. As demonstrated here, one key element in this effort is the development of appropriate databases that describe the relationship between polymorphisms and patterns of gene expression and splicing in multiple human primary tissue types. As the field transitions to the study of rare variants it will be critical to supplement these datasets with complete DNA resequencing data to comprehensively characterize the full spectrum of genetic regulation of expression.
