Look What’s Missing!

June 3, 2019

For the past 17 years, most scientists around the globe  have been using the nucleic acid sequence (or genome, an assembly of DNA information) drawn primarily from a single individual as a kind of “baseline” reference and human species representation for comparing genetic variety among groups of people.

Known as the GRCh38 reference genome, it is periodically updated with DNA sequences from other individuals. But in a new analysis, Johns Hopkins researchers now say that the collective genomes of  910 people of African descent have a large chunk—about 300 million bits—of genetic material that is missing from the basic reference genome.

“There’s so much more human DNA than we originally thought,” says Steven Salzberg, Bloomberg Distinguished Professor of Biomedical Engineering, Computer Science, and Biostatistics.


Read more in the 2019 spring edition of the JHU Engineering Magazine.

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