title: Annotating the Function of the Human Genome with Gene Ontology and Disease Ontology.
abstract: Increasing evidences indicated that function annotation of human genome in molecular level and phenotype level is very important for systematic analysis of genes. In this study, we presented a framework named Gene2Function to annotate Gene Reference into Functions (GeneRIFs), in which each functional description of GeneRIFs could be annotated by a text mining tool Open Biomedical Annotator (OBA), and each Entrez gene could be mapped to Human Genome Organisation Gene Nomenclature Committee (HGNC) gene symbol. After annotating all the records about human genes of GeneRIFs, 288,869 associations between 13,148 mRNAs and 7,182 terms, 9,496 associations between 948 microRNAs and 533 terms, and 901 associations between 139 long noncoding RNAs (lncRNAs) and 297 terms were obtained as a comprehensive annotation resource of human genome. High consistency of term frequency of individual gene (Pearson correlation = 0.6401, p = 2.2e - 16) and gene frequency of individual term (Pearson correlation = 0.1298, p = 3.686e - 14) in GeneRIFs and GOA shows our annotation resource is very reliable.
authors.affiliation: School of Life Science and Technology, Harbin Institute of Technology, Harbin 150001, China.
authors.forename: Yang
authors.initials: Y
authors.lastname: Hu
authors.affiliation: School of Life Science and Technology, Harbin Institute of Technology, Harbin 150001, China.
authors.forename: Wenyang
authors.initials: W
authors.lastname: Zhou
authors.affiliation: School of Life Science and Technology, Harbin Institute of Technology, Harbin 150001, China.
authors.forename: Jun
authors.initials: J
authors.lastname: Ren
authors.affiliation: School of Software, Harbin Institute of Technology, Harbin 150001, China.
authors.forename: Lixiang
authors.initials: L
authors.lastname: Dong
authors.affiliation: School of Computer Science and Technology, Harbin Institute of Technology, Harbin 150001, China.
authors.forename: Yadong
authors.identifier: 0000-0001-6500-6217
authors.initials: Y
authors.lastname: Wang
authors.affiliation: Department of Mathematics, Harbin Institute of Technology, Harbin 150001, China.
authors.forename: Shuilin
authors.identifier: 0000-0002-2318-432X
authors.initials: S
authors.lastname: Jin
authors.affiliation: College of Bioinformatics Science and Technology, Harbin Medical University, Harbin 150081, China.
authors.forename: Liang
authors.identifier: 0000-0002-6665-6710
authors.initials: L
authors.lastname: Cheng
mesh_terms: D002874:Chromosome Mapping / Q000379:methods*; D030541:Databases, Genetic; D004282:Documentation / Q000379:methods*; D063990:Gene Ontology; D005796:Genes / Q000235:genetics*; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000145:classification / Q000235:genetics*; D015894:Genome, Human / Q000235:genetics*; D006801:Humans; D020641:Polymorphism, Single Nucleotide / Q000235:genetics
chemical_list: D005819:Genetic Markers