- The 2003 completion of the human genome project did not yield a complete or representative reference; 10% of genomes from people of African descent were missing.
- The reference genome lacks variation encoding, being mostly from a single diabetic subject, which biases research and medicine efficacy studies.
- Pangenomes for bacteria exist, but human DNA is more complex due to structural variations that require new technology for full capture.
- A proposed solution using forking references disrupts simple linear addressing, complicating gene location and research compatibility.
- NIH funding seeks to develop universal technology, but interim tools like Heng Li's software may create new blind spots if standardized too early.
- Calls exist to rejig the reference to a consensus sequence to reduce bias while maintaining existing software use.
- A fully inclusive human pan-genome would greatly benefit DNA research and universal understanding of life and health.