Clinical Trial: Implementation of Long-read Sequencing for the Diagnosis of Rare Diseases.

U.S., Feb. 11 -- ClinicalTrials.gov registry received information related to the study (NCT07400913) titled 'Implementation of Long-read Sequencing for the Diagnosis of Rare Diseases.' on Feb. 03.

Brief Summary: Following on from the third national plan for rare diseases (PNMR3), the main objectives of the PNMR4 are to reduce diagnostic uncertainty and dead ends and to strengthen translational research to promote diagnosis and the development of new treatments in the field of rare diseases.

To this end, the French Genomic Medicine Plan 2025 (PFMG2025) is organizing the rollout of whole genome sequencing (WGS) for diagnostic purposes.

This technological milestone, covering regions outside the coding regions, has recently enabled the ident...