Actively Recruiting
PREcision Diagnostics in Rare genetIC Diseases and Tumors - Long Read Sequencing
Led by IRCCS Azienda Ospedaliero-Universitaria di Bologna · Updated on 2025-01-31
30
Participants Needed
1
Research Sites
104 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
Using long-read sequencing (LRS) technology to achieve molecular diagnosis in patients with rare genetic diseases who have already been tested by state-of-the-art genetic analysis with ambiguous or negative results. This will lead to efficient and reliable identification and clinical interpretation of cryptic and complex structural genomic variants, which represent the central challenge for the coming decades in human genetics.
CONDITIONS
Official Title
PREcision Diagnostics in Rare genetIC Diseases and Tumors - Long Read Sequencing
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Patients or relatives of patients with copy number variations detected by aCGH that have uncertain clinical significance
- Patients or relatives of patients with inconclusive results from Whole Exome Sequencing and aCGH (no pathogenic or likely pathogenic variants found)
- Patients or relatives of patients with a known single pathogenic or likely pathogenic mutation in an autosomal recessive gene detected by WES or aCGH
- Patients or relatives of patients with complex structural variants whose disease mechanism is unclear
You will not qualify if you...
- None
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 1 location
1
IRCCS Azienda Ospedaliero-Universitaria di Bologna
Bologna, Bologna, Italy, 40138
Actively Recruiting
Research Team
T
Tommaso Pippucci, Biologist
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
4
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