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Diagnostics Genetics and epigenetics, Precision medicine, Guidelines and recommendations

Reference Genome Refresh

The use of whole-genome sequencing to diagnose rare disease is on the rise. In such cases, an individual’s genetic map is compared with the reference genome – a “standard” version, if you will. Although many of the differences between the two are not significant, some divergent sequences can be the drivers of rare disease. However, new evidence uncovered by a team from the Karolinska Institutet in Sweden indicates that the human reference genome might be outdated – at least in regard to its diversity (1). We spoke to Jesper Eisfeldt, a doctoral student in the Rare Diseases research group and first author of the paper, to find out more.

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About the Author

Luke Turner

While completing my undergraduate degree in Biology, I soon discovered that my passion and strength was for writing about science rather than working in the lab. My master’s degree in Science Communication allowed me to develop my science writing skills and I was lucky enough to come to Texere Publishing straight from University. Here I am given the opportunity to write about cutting edge research and engage with leading scientists, while also being part of a fantastic team!

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