Genetic & Genomic MedicinemedRxivPreprint
Long-read sequencing resolves the clinically relevant CYP21A2 locus, supporting a new clinical test for Congenital Adrenal Hyperplasia
Jean Monlong, Xiao Chen, Hayk Barseghyan…·Emmanuèle C. Délot
This paper uses long-read sequencing to comprehensively identify pathogenic variants in the CYP21A2 locus for Congenital Adrenal Hyperplasia, including phasing and module counts, improving diagnostic accuracy.
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