Genome in a Bottle: Spelling Out DNA’s ‘Dark’ Sequences

Justin Zook in a lab surrounded by genetic sequencing machines

When the Human Genome Project began 20 years ago, its consortium of researchers from 20 institutes spent more than $1 billion over 10 years to sequence that first genome’s billions of bases. Recently, researchers from the Harvard Personal Genome Project sent me my whole genome sequence at a small fraction of the time and cost. They compared my genome to the reference genome generated by the Human Genome Project and found over 3 million small differences, or variants. I was excited to explore my genome and perhaps find some clues related to the source of my type 1 diabetes and lymphedema, which are sometimes genetic but don’t run in my family. Yet, based on our collaborative work in the NIST-hosted “Genome in a Bottle” (GIAB) Consortium, I know there are still many challenges both in characterizing the sequence of all of the billions of bases in the human genome, the focus of our work, as well as in understanding what the sequence means.