Pangenome-based Inference of a Patient’s Germline Genome from a Single Tumor Sample
Official title: Pangenome-based Inference of Phased, Inherited Genome from Patient-Derived Sequencing Data
Funded at Cantata Bio LLC · NIH-11294135 · Data updated 2026-11-12
A new bioinformatics tool will help identify a patient’s inherited genome from one tumor sequencing sample, making cancer genetics analyses easier and more affordable.
Quick facts
| Grant type | Sbir 1 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Cantata Bio LLC NIH-funded |
| Lab location | 1 site (Worcester, UNITED STATES) |
| Project start | September 3, 2026 |
| Project end | August 31, 2027 |
| Funding year | 2026 |
| Award (this year) | $406,703 |
| NIH project number | 1R43HG014887-01 |
| Project ID | NIH-11294135 on NIH RePORTER |
Who could benefit from this research
✓Could help
Patients with cancer who have tumor sequencing data and may benefit from clearer germline interpretation.
✕Less likely to help
Patients without tumor sequencing data or those not involved in genetic analysis may not directly benefit.
What this research studies
This project aims to build a software tool that can reconstruct a patient’s diploid germline genome using only a single sequencing dataset, even when the tissue is diseased. It uses the human pangenome graph to separate inherited variants from tumor-associated changes, reducing the need for matched-normal or trio samples. The work leverages a clinical ovarian cancer sample to demonstrate how well the approach can recover a patient’s true germline genome and improve variant interpretation. If successful, clinicians could more accurately identify disease-causing variants without extra sample collection or sequencing. The effort combines advanced bioinformatics methods with real clinical data to move toward easier, more cost-effective genetic analysis in cancer care.
Why it matters
Potential benefit: If successful, patients could receive more accurate genetic results from a single test, potentially guiding personalized cancer treatment.
How similar studies have gone: Previous work shows promise using pangenome graphs for germline inference, but this remains a developing area with ongoing need for proof-of-concept in real clinical samples.
Where this research is happening
-
Cantata Bio LLC
Worcester, United States Active
Researchers
- Principal investigator: Sanborn, John Zachary — Cantata Bio LLC
- Study coordinator: Sanborn, John Zachary
About this research
- This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
- Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
- For full project details, budget, and progress reports, visit the official NIH RePORTER page.