Documentation and coverage of underrepresented reference populations

Establish sufficient scientific documentation to define and incorporate currently underrepresented small populations and incompletely represented reference populations into HANCESTRO, thereby closing the ontology’s coverage gaps.

Background

Some reference populations lack sufficiently detailed documentation, making it difficult to create accurate population descriptors and complete HANCESTRO’s coverage of underrepresented small populations. The authors state that no solution has been identified beyond monitoring emerging research and encouraging researchers to request new terms from HANCESTRO or, for African populations, from the African Population Ontology. This remains an unresolved documentation and coverage problem.

References

Sparse documentation for some reference populations represents a limitation also on a wider level, making it challenging to close some of our coverage gaps for underrepresented small populations. No solution exists beyond monitoring emerging work and encouraging researchers in the fields to proactively request new terms for their populations of interest from HANCESTRO - or AfPO, in the case of African populations.

— Expanding the Human Ancestry Ontology to include under-represented populations and ethnicities for broader utility in annotations  (2608.28030 - Caron et al., 28 Aug 2026) in Section “Limitations & challenges”