THE FULL PICTURE

PANGENOME PROJECT AIMS TO TELL THE COMPLETE STORY OF HUMAN DNA

- DAMIEN MARTIN

The mapping of the human genome was a triumph of science, one of the 21st century’s biggest breakthroughs. From the inception of the Human Genome Project in 1990 to the “first draft” published in 2003 to the completion of the first end-to-end genome in 2021, it was a project decades in the making. Like almost all scientific advancements, it wasn’t perfect, and it was really just the beginning.

A major reason for that imperfection is that about two thirds of the human reference genome scientists have been using comes from one person, an American man with European and African ancestry. That tells us a great deal about somewhere between 99 and 99.8% of human DNA. But there’s a lot of diversity in that last 0.2 to 1%, enough to make every single one of us unique. Picking up where the Human Genome Project left off, the Human Pangenome Reference Consortium aims to fill in those gaps. Doing so will reveal to us a great deal about our collective and individual humanity and, the hope is, lead to world-changing medical breakthroughs.

PICTURE OF HEALTH

The HPRC, launched in 2019 by research institutions from the U.S. and Europe, has published a draft human pangenome reference using genomic sequences from 47 people from several parts of the world. The pangenome renders more than 99% of each sequence with high accuracy and reveals over 120 million DNA base pairs not seen before, reports Rockefeller University, one of the institutions involved in the consortium.