U.S., April 8 -- ClinicalTrials.gov registry received information related to the study (NCT07515976) titled 'Mapping of Genomic Structural Variations in Major Birth Defects' on March 10.
Brief Summary: In the context of intricate cases with ambiguous prenatal genetic diagnoses, this project intends to carry out long - read DNA sequencing data analysis on birth defect cases and family samples. The emphasis lies on the extraction and identification of individual - specific genomic characteristics, as well as the development of detection algorithms for all categories of structural variations (SV), including complex SV. It will establish a pan - genomic reference map specific to the Chinese population to facilitate the identification of pathog...