Eric Topol May 14, 2023
Progress 23 years after the first human genome draft sequence
A notable series of publications in Nature and Nature Biotechnology this week provide a major expansion of knowledge about the human genome, filling in important gaps that have existed for over 20 years. It’s called the Pangenome.
You may recall where we were in June 2000 with an early first draft (as reported on front page of the New York Times below). That reference genome sequence was predominantly based on one individual from Buffalo, New York. It was full of gaping holes and mistakes. The work of the Human Pangenome Reference Consortium Project, led by University of California, Santa Cruz (Benedict Paten and Karen Miga) with international collaborators, has...
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