Large genomic consortia (e.g., ENCODE12) are generating an unprecedented volume of data on the function of genetic variation. The Genotype-Tissue Expression (GTEx13) project is an NIH Common Fund project that aims to collect a comprehensive set of tissues from 900 deceased donors (for a total of about 20,000 samples) and to provide the scientific community a database of genetic associations with molecular traits such as mRNA levels. (See GTEx main paper14 on Phase 1 data.) Other large-scale transcriptome datasets include Genetic European Variation in Health and Disease15 (GEUVADIS, 460 lymphoblastoid cell lines), Depression Genes and Networks (DGN, 922 whole blood samples)16, and Braineac (130 individuals with multiple brain region samples)17. Yet, effective methods that harness these reference transcriptome datasets for disease mapping are lacking.
