TranslationalPangenomics

Research

We work across the full pan­ge­nomics stack. With pangenome×representation we build im­plic­it, queryable align­ments and graphs, and with pangenome×association we use graph fea­tures as genetic markers. We apply them to pangenome×fragility in the human genome, to cancer×pangenomics in tumors, and to complex disease.

Pangenome×Representation

To make pop­u­la­tion-scale anal­y­sis ac­ces­si­ble, we rep­re­sent pan­ge­nomes im­plic­it­ly, without build­ing a graph. Tra­ce­points com­press align­ments, and impg queries them to build graphs on demand.

Pangenome×Association

We find the vari­ants behind traits and disease risk, using pan­ge­nome graph fea­tures, not variant calls, as markers. With long reads, we are re­solv­ing the hidden alleles on prostate cancer risk hap­lo­types.

Pangenome×Fragility

We study hidden telom­ere repeats in the human pan­ge­nome, weak spots where DNA can break. In glioblas­toma, we read each DNA mol­e­cule on its own to find markers of un­sta­ble tumors and track their evo­lu­tion.

Cancer×Pangenomics

We find the somatic struc­tural vari­ants that a single ref­er­ence misses. We build per­son­al­ized pan­ge­nomes from tumor and matched normal samples with long-read se­quenc­ing and de novo as­sem­bly.

Team

The lab opened in January 2026. We are actively building the team.

Andrea Guarracino

Principal×Investigator

Alejandro Ortigas-Vasquez

Postdoc×Fellow

Funding