Researchers have identified structural variants linked to foveal hypoplasia using SVRare and long-read nanopore sequencing. This discovery enhances the understanding of genetic factors contributing to this rare eye condition.
diagnostic discovery of structural variants causing foveal hypoplasia using svrare and long read nanopore sequencing
Original title: “Diagnostic discovery of structural variants causing foveal hypoplasia using SVRare and long-read nanopore sequencing.”