Genetic & Genomic MedicineHuman MutationPeer-reviewed
Incorporating Nanopore Sequencing into a Diverse Diagnostic Toolkit for Incontinentia Pigmenti
Simone Ahting, Denny Popp, Henry Oppermann…·Isabell Schumann
The paper uses nanopore sequencing to accurately phase a heterozygous deletion in the IKBKG gene in an IP family, confirming its location and X-inactivation status.
2 citations