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BioMed Research International
Volume 2016 (2016), Article ID 4130861, 8 pages
http://dx.doi.org/10.1155/2016/4130861
Research Article

Annotating the Function of the Human Genome with Gene Ontology and Disease Ontology

1School of Life Science and Technology, Harbin Institute of Technology, Harbin 150001, China
2School of Software, Harbin Institute of Technology, Harbin 150001, China
3School of Computer Science and Technology, Harbin Institute of Technology, Harbin 150001, China
4Department of Mathematics, Harbin Institute of Technology, Harbin 150001, China
5College of Bioinformatics Science and Technology, Harbin Medical University, Harbin 150081, China

Received 2 June 2016; Revised 24 July 2016; Accepted 27 July 2016

Academic Editor: Xing Chen

Copyright © 2016 Yang Hu et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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, ) and gene frequency of individual term (Pearson correlation = 0.1298, ) in GeneRIFs and GOA shows our annotation resource is very reliable.