New DNA reader cracks tough genetic mysteries
NCT ID NCT06775613
First seen Jun 27, 2026 · Last updated Jun 27, 2026
Summary
This study tests a new DNA-reading technology called ultra-long read sequencing to find hidden genetic changes that standard tests miss. Researchers will analyze blood samples from 15 patients with known or suspected genetic variants in difficult-to-read DNA regions. The goal is to see if this method can provide clearer, faster diagnoses for conditions linked to repeated DNA segments or large structural changes.
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Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
Contacts and locations
Locations
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IRCCS Azienda Ospedaliero-Universitaria di Bologna
Bologna, Bologna, 40138, Italy
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