Optical Genome Mapping (Bionano®) clinical trials

Prospective Study to Assess Medical Performance of Optical Mapping and Long Read Sequencing in Detecting Numerical and Structural Chromosome Abnormalities

This study is looking at new genetic tests to better understand why some people experience infertility, learning difficulties, birth defects, or miscarriages. It compares these newer, more detailed tests to older ones, hoping to find better ways to spot problems with chromosomes.