Long-read DNA and RNA sequencing to find genetic causes and simplify testing
Long-read DNA and RNA sequencing to identify disease-causing genetic variation and streamline testing
['FUNDING_OTHER'] · UNIVERSITY OF WASHINGTON · NIH-11171577
This project uses long-read DNA and RNA sequencing to find genetic causes in people with suspected rare genetic disorders who remained undiagnosed after standard genetic testing.
Quick facts
| Phase | ['FUNDING_OTHER'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | UNIVERSITY OF WASHINGTON (nih funded) |
| Locations | 1 site (SEATTLE, UNITED STATES) |
| Trial ID | NIH-11171577 on ClinicalTrials.gov |
What this research studies
If you have a suspected genetic condition but standard tests didn't give an answer, researchers will use whole-genome long-read DNA and RNA sequencing to look for changes that are hard to detect with usual methods. Long-read sequencing reads much larger stretches of DNA and RNA, which helps reveal large deletions, insertions, inversions, repeat expansions, and variants in duplicated regions that short-read tests often miss. The team will apply this single, comprehensive test to a large group of previously unsolved cases to see how many more diagnoses can be made and whether one test could replace multiple current tests. This work is led by the University of Washington and runs through 2027.
Who could benefit from this research
Good fit: Ideal candidates are people (including children) who have a suspected genetic disorder but remain undiagnosed after standard clinical genetic testing such as exome sequencing and microarray.
Not a fit: People whose condition is not caused by DNA or RNA changes detectable by sequencing, or those who already have a clear genetic diagnosis, are unlikely to benefit from this testing.
Why it matters
Potential benefit: If successful, this approach could provide more diagnoses for people with unexplained genetic conditions and reduce the need for multiple separate genetic tests.
How similar studies have performed: Previous smaller studies have shown that long-read sequencing can uncover structural variants and diagnoses missed by short-read tests, but applying it at large clinical scale is relatively new.
Where this research is happening
SEATTLE, UNITED STATES
- UNIVERSITY OF WASHINGTON — SEATTLE, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: MILLER, DANNY ERWIN — UNIVERSITY OF WASHINGTON
- Study coordinator: MILLER, DANNY ERWIN
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.