Bioinformatics involves the use of techniques including applied mathematics, informatics, statistics, computer science, artificial intelligence, chemistry and biochemistry to solve biological problems usually on the molecular level. Research in Bioinformatics often overlaps with systems biology. Major research efforts in the field include sequence alignment, gene finding, genome assembly, protein structure alignment, protein structure prediction, prediction of gene expression and protein-protein interactions, and the modeling of evolution.

Bioinformatics refers to the creation and advancement of algorithms, computational and statistical techniques, and theory to solve formal and practical problems posed by or inspired from the management, analysis of biological data, hypothesis-driven investigation of a specific biological problem using computers, carried out with experimental and simulated data, with the primary goal of discovery and the advancement of biological knowledge.

A common function in bioinformatics is the use of mathematical tools to extract useful information from data produced by high-throughput biological techniques such as genome sequencing. A representative problem in bioinformatics is the assembly of high-quality genome sequences from fragmentary "shotgun" DNA sequencing. Other common problems include the study of gene regulation using data from microarrays or mass spectrometry.