The Pangenome: Are Single Reference Genomes Dead?

Researchers are abandoning the concept of a list of genes sequenced from a single individual, instead aiming for a way to describe all the genetic variation within a species.

Written byCatherine Offord

| 14 min read

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In 1995, researchers published the world’s first complete genome sequence of a free-living organism, that of the bacterium Haemophilus influenzae. The sequences of many model organisms, including Escherichia coli and Arabidopsis thaliana, followed shortly thereafter, and by 2001, the Human Genome Project had completed the first draft of a person’s entire DNA sequence. With this new capacity to decipher the genetic blueprint for any organism, some researchers believed they held the key to explore the inner workings of every species on Earth—guided by just a single reference genome per species.

“It was not really in the accepted thought that you’d have to [sequence] more than one of anything,” says Hervé Tettelin, an associate professor of microbiology and immunology at the University of Maryland. “The human ...

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Meet the Author

Catherine Offord
After undergraduate research with spiders at the University of Oxford and graduate research with ants at Princeton University, Catherine left arthropods and academia to become a science journalist. She has worked in various guises at The Scientist since 2016. As Senior Editor, she wrote articles for the online and print publications, and edited the magazine’s Notebook, Careers, and Bio Business sections. She reports on subjects ranging from cellular and molecular biology to research misconduct and science policy. Find more of her work at her website.
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