Reference Genome Refresh
Research uncovers greater human heterogeneity – and calls for an improved reference genome
Luke Turner | | Quick Read
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uncovered by a team from the Karolinska Institutet in Sweden indicates that the human reference genome might be outdated – at least in regard to its diversity (1).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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