We solved a puzzling case of Incontinentia Pigmenti by phasing a pathogenic variant in IKBKG to the preferentially inactivated X chromosome and at the same time discriminating gene from pseudogene using #Nanopore long reads.
#HumanGenetics #IncontinentiaPigmenti #XInactivation #LongReads

May I join please?

Here is a great summary of genomic visualization tools: cmdcolin.github.io/awesome-geno...