Better detection of HLA gene changes
Computational toolkit for robust detection of genomic variation in human leukocyte antigen genes
This project will build easy-to-use computer tools to find genetic changes in HLA genes from DNA sequencing for people with autoimmune and related conditions.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Tx Md Anderson Can Ctr NIH-funded |
| Lab location | 1 site (Houston, United States) |
| Project ID | NIH-11296871 on NIH RePORTER |
What this research studies
We will improve and combine existing software (Polysolver and Mutect3) to find both inherited and tumor-related small genetic changes in HLA genes. The team will create a trusted reference dataset to measure and compare how well different tools work. The methods will be packaged using GATK4 and Workflow Definition Language so labs and hospitals can run them at scale. The final pipelines will be well-documented and supported so clinicians and researchers can use them reliably.
Who could benefit from this research
Good fit: People who have had or are eligible for genomic sequencing, especially those with autoimmune, immune-related, or transplant-related concerns, are the most likely candidates to benefit from this work.
Not a fit: Patients without HLA-related conditions or those who do not have DNA sequencing data available are unlikely to receive direct benefit from this project.
Why it matters
Potential benefit: If successful, patients could get more accurate HLA genetic results that improve diagnosis, risk prediction, and matching for treatments such as transplants and immune therapies.
How similar studies have performed: There are existing HLA typing tools that have been useful in research, but comprehensive, accurate, and scalable pipelines for small HLA variants are limited and this project aims to fill that gap.
Where this research is happening
Houston, United States
- University of Tx Md Anderson Can Ctr — Houston, United States (Active)
Researchers
- Principal investigator: Shukla, Sachet Ashok — University of Tx Md Anderson Can Ctr
- Study coordinator: Shukla, Sachet Ashok
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 below.