U.S., June 25 -- ClinicalTrials.gov registry received information related to the study (NCT07665554) titled 'Advancing Neurogenetic Diagnoses Through Long-Read Sequencing' on June 11.
Brief Summary: Nucleotide repeats emerge as one of the most prolific classes of genetic variations. They have the propensity to in-crease in length across generations, and have been implicated in at least 65 known neurological/ neurodevelop-mental and neuromuscular conditions. Simultaneous analysis of all these nucleotide repeats is now possible through the cutting-edge methodologies recently developed that are the long-read sequencing and the optical genome mapping. Investigator propose to test these methodologies in patients carrying expansions in those rep...