Medical Xpress·3 min read·medium

We may need a new map to properly interpret our genome

S
Semmelweis University
We may need a new map to properly interpret our genome
✦AI Summary

Researchers are advocating for a shift toward pangenomics to improve the accuracy of whole-genome sequencing. By moving beyond a single reference genome, scientists hope to better identify disease risks and advance personalized preventive medicine.

Why it matters

Improving genomic reference standards is critical for the future of predictive healthcare and the effective implementation of personalized medicine.

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edited by Gaby Clark , reviewed by Robert Egan

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Add to Preferred Sources The "high-impact illusion" caused by reference bias and its resolution via pangenomics. Credit: GeroScience (2026). DOI: 10.1007/s11357-026-02436-z Genetic information may play an increasingly important role in the personalized preventive medicine of the future. Whole-genome sequencing could open up new possibilities for identifying susceptibility to and risk of specific diseases even before symptoms appear, emphasizes Dr. Gyula Richárd Nagy, a clinical geneticist at Semmelweis University. However, to achieve this, we must first accurately "read" our genome—that is, the billions of DNA letters—with increasing precision. We must also ensure that the reference we are comparing it to is appropriate.

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