Broad Institute’s Mendelian Genomics Center aims to harmonize long- and short-read sequencing data for rare diseases
Official title: Broad Institute Mendelian Genomic Research Center
Funded at Broad Institute, INC. · NIH-11498018 · Data updated 2026-11-12
Aims to clean up and share detailed genetic data from thousands of people with rare diseases to improve diagnosis.
Quick facts
| Grant type | U01 cooperative agreement |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Broad Institute, INC. NIH-funded |
| Lab location | 1 site (Cambridge, United States) |
| Project start | April 1, 2026 |
| Project end | March 31, 2027 |
| Funding year | 2026 |
| Award (this year) | $2,348,207 |
| NIH project number | 3U01HG011755-05S1 |
| Project ID | NIH-11498018 on NIH RePORTER |
Who could benefit from this research
✓Could help
Individuals with suspected or confirmed Mendelian genetic diseases who have had sequencing data generated by GREGoR and related programs.
✕Less likely to help
Patients whose data are not included in GREGoR or who do not have Mendelian-etiology conditions may not directly benefit.
What this research studies
This project adds standardized, cloud-based data analysis pipelines to combine long-read and short-read genome data from GREGoR participants, creating a uniform dataset that can be used across cohorts. It also integrates DNA methylation and multiomics data with a joint calling framework for structural variants, and expands controlled-access sharing through the seqr platform. The work builds on existing GREGoR data and applies new methods for noncoding variant prioritization and tandem repeat expansion discovery, with results shared back to participants when possible.
Why it matters
Potential benefit: Patients with rare genetic diseases could see faster, more accurate diagnoses and access to shared data that may inform future care.
How similar studies have gone: Previous large-scale genomic projects show that standardized, integrated data improve diagnostic yield and cross-cohort analyses.
Where this research is happening
-
Broad Institute, INC.
Cambridge, United States Active
Researchers
- Principal investigator: O'donnell-Luria, Anne — Broad Institute, INC.
- Study coordinator: O'donnell-Luria, Anne
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.