Ophthopedia Update: Neutral Intrachromosomal Translocation of PAX6 and Aniridia: This diagnostic study aims to determine whether optical genome mapping and long-read whole-genome sequencing can identify a pathogenic structural variant disrupting PAX6 in an individual… #Ophthalmology #Eyecare #JAMA
This diagnostic study aims to determine whether optical genome mapping and long-read whole-genome sequencing can identify a pathogenic structural variant disrupting PAX6 in an individual with classic aniridia after negative standard clinical and short-read genomic testing.
