What is Bioinformatics?

Natalie Gill

Gladstone Bioinformatics Core

June 10, 2025



Bioinformatics: An interdisciplinary field that develops computational methods and software tools to analyze and interpret, complex biological datasets using biology, computer science, mathematics, and statistics.

A graph of the relationship of biology, data science and computer science to bioinformatics

Origin Story

  • 1960s: Over 10 years before the development of DNA sequencing
  • The Edman degradation method for protein sequencing could only sequence them in small fragments of 50-60 amino acids
  • Margaret Dayhoff and Robert S. Ledley developed the first bioinformatics software, COMPROTEIN to assemble the fragments into the full structure of each protein
A fortran punch card with a single line of code Picture of the IBM 7090 mainframe

Timeline

  • 1976: The first fully sequenced genome (Bacteriophage MS2)
  • 1977: First easy to use personal computers hit the market
  • 1984: The University of Wisconsin Genetics Computer Group published the ‘GCG’ software suite for DNA, RNA and protein analysis.
  • 1990: Human Genome Project initiated by the U.S. National Institutes of Health
  • 2003: Human Genome Project completed, cost $2.7 billion (in 1991 dollars)
  • 2014: Cost to sequence a human genome drops to $1000

A plot of the growth data in the NCBI SRA showing the exponential growth

A figure showing the different omics fields and how they are all related to gene network regulation inference

Evolution of the Field

  • Genomics
  • Transcriptomics
  • Proteomics
  • Epigenomics
  • Phylogenetics
  • Systems biology
  • Image analysis
  • Machine learning

The Future of Bioinformatics

  • Complete multiomics of single cells
  • Virtual cells
  • Virtual organisms
  • AI Scientists: Autonomous systems that can design, implement and analyze experiments independently

Image of 50 largest neurons in the drosophila brain showing the connections Credit: Tyler Sloan and Amy Sterling for FlyWire, Princeton University

Skills Needed

  • Programming languages: R, Python and SQL
  • Computer skills: UNIX command-line, git
  • Domain knowledge: Understanding of molecular genetics, cell biology, evolutionary biology
  • Quantitative skills: Statistics, linear algebra, machine learning
  • Communication skills: Translating complex analyses into insights for researchers

Questions I Help Answer

  • What genes are differentially expressed between conditions or treatments?
  • Which biological pathways are activated in disease versus healthy samples?
  • Which cell types are present in my single-cell or spatial transcriptomics data?

Thank you!

Questions?







References:

Gauthier, J., Vincent, A. T., Charette, S., & Derôme, N. (2018). A brief history of bioinformatics. Briefings in Bioinformatics, 20(6), 1981–1996.