Genetic diagnosis of CYP21A2-related CAH: adaptive sampling long-read sequencing is an accurate and scalable solution.

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Title: Genetic diagnosis of CYP21A2-related CAH: adaptive sampling long-read sequencing is an accurate and scalable solution.
Authors: Lildballe DL; Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark. dorte.launholt.lildballe@clin.au.dk.; Department of Clinical Medicine, Health, Aarhus University, Aarhus, Denmark. dorte.launholt.lildballe@clin.au.dk., Huno MR; Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark.; Department of Orthopedic Surgery, Slagelse Hospital, Slagelse, Denmark., Ridder LOR; Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark.; Department of Clinical Medicine, Health, Aarhus University, Aarhus, Denmark.; Department of Endocrinology, Aarhus University Hospital, Aarhus, Denmark., Balle CM; Department of Clinical Medicine, Health, Aarhus University, Aarhus, Denmark.; Department of Endocrinology, Aarhus University Hospital, Aarhus, Denmark., Drue SO; Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark.; Department of Clinical Medicine, Health, Aarhus University, Aarhus, Denmark., Berglund A; Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark.; Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark., Dunø M; Department of Clinical Genetics, Rigshospitalet, Copenhagen, Denmark., Bak EN; Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark.; Department of Clinical Medicine, Health, Aarhus University, Aarhus, Denmark., Viuff MH; Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark.; Department of Gynaecology and Obstetrics, Aarhus University Hospital, Aarhus, Denmark., Rasmussen LS; Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark.; Department of Clinical Medicine, Health, Aarhus University, Aarhus, Denmark., Gravholt CH; Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark.; Department of Clinical Medicine, Health, Aarhus University, Aarhus, Denmark.; Department of Endocrinology, Aarhus University Hospital, Aarhus, Denmark.
Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2026 Apr; Vol. 34 (4), pp. 535-542. Date of Electronic Publication: 2026 Jan 22.
Publication Type: Journal Article
Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1476-5438
DOI:10.1038/s41431-026-02019-8