U.S., Jan. 29 -- ClinicalTrials.gov registry received information related to the study (NCT06796751) titled 'PREcision Diagnostics in Rare GenetIC Diseases and Tumors - Long Read Sequencing' on Jan. 22.
Brief Summary: Using long-read sequencing (LRS) technology to achieve molecular diagnosis in patients with rare genetic diseases who have already been tested by state-of-the-art genetic analysis with ambiguous or negative results. This will lead to efficient and reliable identification and clinical interpretation of cryptic and complex structural genomic variants, which represent the central challenge for the coming decades in human genetics.
In addition, analyze with a multi-omics approach, through the integration of other technologies su...