Longevity Briefs: The Human Pangenome – Building a more inclusive human reference genome

Posted on 12 November 2020

Longevity briefs provides a short summary of novel research in biology, medicine, or biotechnology that caught the attention of our researchers in Oxford, due to its potential to improve our health, wellbeing, and longevity.

The first entire human genome was sequenced in 2003. The DNA sequence, made up of 3 billion letters, was almost entirely of DNA supplied by people in the city of Buffalo, New York. Currently, when researchers or clinicians analyse an individual’s genome, they compare it to this reference genome to identify alterations in the code.

But can one genome tell us everything we want to know about the entirety of humanity? No, as one reference genome does not reflect the genomic diversity of the entire human species.

We need many reference genomes — a pangenome.

This is the goal of the Human Genome Reference Program, funded by the National Human Genome Research Institute. At least 350 high quality, gapless, human genome sequences will be completed from ancestrally diverse people over the next couple of years. Work on this mammoth undertaking has already started and is poised to transform the future of genomic research and its application to human health.

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