Find new candidate genes

In a newborn with congenital diaphragmatic hernia (CDH), a severe developmental disorder affecting the diaphragm, lungs and sometimes heart, OGM detected two adjacent duplications, one direct and one inverted. OGM revealed a much more complex architecture than could be inferred from microarray data and identified several additional candidate genes for CDH.

High S. Advanced analysis of risk loci in congenital disorders using Bionano optical genome mapping. ASHG Bionano Symposium. 2019.