TitleExploring the human genome with functional maps.
Publication TypeJournal Article
Year of Publication2009
AuthorsHuttenhower, C, Haley, EM, Hibbs, MA, Dumeaux, V, Barrett, DR, Coller, HA, Troyanskaya, OG
JournalGenome Res
Date Published2009 Jun
KeywordsAdaptor Protein Complex 3, Adaptor Protein Complex beta Subunits, Algorithms, Amino Acids, Autophagy, Bayes Theorem, Chromosome Mapping, Computational Biology, Fibroblasts, Gene Expression Profiling, Gene Regulatory Networks, Genome, Human, Humans, Immunoblotting, Lysosomal-Associated Membrane Protein 2, Lysosome-Associated Membrane Glycoproteins, Microscopy, Fluorescence, Nerve Tissue Proteins, rab GTP-Binding Proteins, Signal Transduction, Vacuolar Proton-Translocating ATPases

Human genomic data of many types are readily available, but the complexity and scale of human molecular biology make it difficult to integrate this body of data, understand it from a systems level, and apply it to the study of specific pathways or genetic disorders. An investigator could best explore a particular protein, pathway, or disease if given a functional map summarizing the data and interactions most relevant to his or her area of interest. Using a regularized Bayesian integration system, we provide maps of functional activity and interaction networks in over 200 areas of human cellular biology, each including information from approximately 30,000 genome-scale experiments pertaining to approximately 25,000 human genes. Key to these analyses is the ability to efficiently summarize this large data collection from a variety of biologically informative perspectives: prediction of protein function and functional modules, cross-talk among biological processes, and association of novel genes and pathways with known genetic disorders. In addition to providing maps of each of these areas, we also identify biological processes active in each data set. Experimental investigation of five specific genes, AP3B1, ATP6AP1, BLOC1S1, LAMP2, and RAB11A, has confirmed novel roles for these proteins in the proper initiation of macroautophagy in amino acid-starved human fibroblasts. Our functional maps can be explored using HEFalMp (Human Experimental/Functional Mapper), a web interface allowing interactive visualization and investigation of this large body of information.

Alternate JournalGenome Res.