T2T-CHM13 reference genome reduces mapping bias and enhances alignment accuracy at disease-associated variants
Ilaria Cherchi, Francesco Orlando, Orsetta Quaini, Marta Paoli, Yari Ciani, Francesca Demichelis · 2026
Read T2T-CHM13 reference genome reduces mapping bias and enhances alignment accuracy at disease-associated variants by Ilaria Cherchi, Francesco Orlando, Orsetta Quaini, Marta Paoli, Yari Ciani, Francesca Demichelis (2026) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/pmc-13595211.txt.
Description
Ilaria Cherchi and co-authors report a 2026 study of a newer human reference genome, T2T-CHM13. A reference genome is the standard map that DNA reads are matched against. The new map fills gaps and fixes errors in messy, repeated stretches of the older map.
The team compared reads matched to the new map against the older hg38 map across many sample types. The new map cut a bias that skews reads toward the reference version and raised precision at sites tied to disease. Gains showed at variants in the BRCA1 gene, a well-known cancer gene. In cancer patient data, the new map lifted measured variant shares by an average of 2.3 percent. The authors urge clinics to re-run old data against the new map.
Catalog record
| CREATOR | Ilaria Cherchi, Francesco Orlando, Orsetta Quaini, Marta Paoli, Yari Ciani, Francesca Demichelis |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 71 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |