Chapter 8: Biological knowledge assembly and interpretation

PLoS Comput Biol. 2012;8(12):e1002858. doi: 10.1371/journal.pcbi.1002858. Epub 2012 Dec 27.

Abstract

Most methods for large-scale gene expression microarray and RNA-Seq data analysis are designed to determine the lists of genes or gene products that show distinct patterns and/or significant differences. The most challenging and rate-liming step, however, is to determine what the resulting lists of genes and/or transcripts biologically mean. Biomedical ontology and pathway-based functional enrichment analysis is widely used to interpret the functional role of tightly correlated or differentially expressed genes. The groups of genes are assigned to the associated biological annotations using Gene Ontology terms or biological pathways and then tested if they are significantly enriched with the corresponding annotations. Unlike previous approaches, Gene Set Enrichment Analysis takes quite the reverse approach by using pre-defined gene sets. Differential co-expression analysis determines the degree of co-expression difference of paired gene sets across different conditions. Outcomes in DNA microarray and RNA-Seq data can be transformed into the graphical structure that represents biological semantics. A number of biomedical annotation and external repositories including clinical resources can be systematically integrated by biological semantics within the framework of concept lattice analysis. This array of methods for biological knowledge assembly and interpretation has been developed during the past decade and clearly improved our biological understanding of large-scale genomic data from the high-throughput technologies.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Gene Expression Profiling
  • Knowledge*
  • Oligonucleotide Array Sequence Analysis
  • RNA, Messenger / genetics

Substances

  • RNA, Messenger

Grants and funding

This work was supported by the basic science research program through the National Research Foundation of Korea (NRF) funded by the Ministry of Education, Science and Technology (2010-0028631). The funders had no role in the preparation of the manuscript.