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Solving Challenging Diagnoses Through Ultra-long Read Sequencing
Sponsor: IRCCS Azienda Ospedaliero-Universitaria di Bologna
Summary
If the study is able to demonstrate that the LRS concretely overcomes the technical limitations of diagnostic methods routinely used in laboratories, its clinical application may make possible a more accurate analysis of repeated genomic regions and offer greater sensitivity for identifying SVs (Structural Variants)
Key Details
Gender
All
Age Range
28 Days - 65 Years
Study Type
INTERVENTIONAL
Enrollment
15
Start Date
2023-03-10
Completion Date
2025-12-31
Last Updated
2026-01-09
Healthy Volunteers
No
Conditions
Interventions
Long-read sequencing
The technology performed belongs to third-generation sequencing strategies and is capable of analysing very long DNA and RNA fragments.
Locations (1)
IRCCS Azienda Ospedaliero-Universitaria di Bologna
Bologna, Bologna, Italy