Human Pangenome

Diversifying the human reference genome 

The first human genome sequence, produced by the international Human Genome Project in 2000 and published to the internet July 7, 2000 by UC Santa Cruz researchers, was a landmark achievement that gave rise to the burgeoning field of genomic medicine. Based mostly on one person’s genome, the reference has been improved and annotated over the years. It has been an essential reference for making sense of new genomic data. But the current reference genome is still an incomplete sequence and woefully inadequate as a representation of human diversity and genetic variation.

The new project funded NIH grant plans to address those shortcomings by creating a new “human pangenome reference” based on the complete genome sequences of 350 individuals.