Long-read Sequencing Resolves the Clinically Relevant CYP21A2 Locus, Supporting a New Clinical Test for Congenital Adrenal Hyperplasia

Jean Monlong, Xiao Chen, Hayk Barseghyan, William J Rowell, Shloka Negi,Natalie Nokoff,Lauren Mohnach, Josephine Hirsch,Courtney Finlayson, Catherine E Keegan, Miguel Almalvez, Seth I Berger, Ivan de Dios, Brandy McNulty, Alex Robertson, Karen H Miga,Phyllis W Speiser, Benedict Paten,Eric Vilain, Emmanuèle C Délot

medRxiv the preprint server for health sciences（2025）

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