Bioinformatics

Bioinformatics is the use of computing and statistics to store, analyze and interpret biological data, especially DNA, RNA and protein sequences. It grew with the first sequence databases in the 1980s and became essential with the Human Genome Project.

Programs align sequences to find similarities, assemble short reads from DNA sequencing machines into whole genomes, and search databases for matching genes. The BLAST tool, released in 1990, made it possible to search millions of sequences in seconds. Public archives such as GenBank collect and share data, and databases of proteins and structures add the context needed to interpret them.

In genomics it finds genes and the variants that cause disease. In transcriptomics and proteomics it measures which genes are active and which proteins are present, and in metabolomics it links small molecules to pathways. It is used to track outbreaks by comparing viral genomes, as in wastewater-based epidemiology, and to study evolution through phylogenetic trees.

Machine learning now predicts protein shapes from sequence, which was a major advance in AI for structural biology, and models the effects of mutations. The field depends on statistics and biostatistics, and on careful handling of large datasets, which is a part of systems biology.

• Genomics — a main area of application
• DNA Sequencing — the source of much of its data
• Biostatistics — the statistical side of the field