Clinical Trial: Study to Compare Traditional and Emerging Methods for Structural Variant Analysis in Prenatal, Postnatal, and Hematologic Samples

U.S., Nov. 13 -- ClinicalTrials.gov registry received information related to the study (NCT07930832) titled 'Study to Compare Traditional and Emerging Methods for Structural Variant Analysis in Prenatal, Postnatal, and Hematologic Samples' on Oct. 12.

Brief Summary: The study goal is to evaluate an innovative technology, KaryoSolver, which enables molecular karyotype reconstruction, in comparison with reference conventional methods, in terms of:

Presence or absence of clinically detectable structural variants; Type of alteration (aneuploidies, deletions, duplications); Copy number present. KaryoSolver is a software system for reconstructing the molecular karyotype from low-coverage genomic sequencing data using long-read technology.

The ...