Approximately 70% of the current human reference genome is derived from a single individual, known as RP11. That individual is male.
OVARI's Flagship Initiative
Modern biomedical research is built on a shared foundation: the human reference genome.
The current reference genome (GRCh38) underpins nearly all genomic analysis, including sequence alignment, variant calling, genome annotation, disease association studies, and the training of AI and machine-learning models in biology.
However, this reference is structurally biased.
As a result, the reference genome contains:
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One X chromosome
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No representation of female X-chromosome biology
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No direct modelling of XX-specific structure or regulation
Coming soon...
The female reference genome