Genomic Basics for CIOs

As human genetic sequencing becomes more common, organizations are strategizing how their IT infrastructures can help them seize new opportunities. Here are a few things to know about the human genome:

Genetic code is expressed in long sequences of four different DNA molecules called “bases.”

Genetic code basesAdenineThymineGuanineCytosine

A full human genome is made up of roughly 3.2 billion base pairs and 25,000 genes.


Storage size for a complete human genome is between 30GB and 150GB – for the majority of patients, there is no medical need for sequencing the entire genome.

"Marker" is the term for any changes in DNA relative to a "reference" or normal copy. This includes changes to:

  • Single base pairs
  • Insertion or deletion of a sequence of base pairs
  • The number of copies of a given gene

Because markers are a small subset of whole genome sequencing, storage needs are much smaller.