Long-read sequencing: An effective method for genetic analysis of CYP21A2 variation in congenital adrenal hyperplasia
Huijun Li, Xiangyu Zhu, Ying Yang, Wanjun Wang, Aiping Mao, Jiaqi Li, Jiaqi Li, Shilai Bao, Shilai Bao, Jie Li, Jie Li
Topics & Concepts
Sanger sequencingMultiplex ligation-dependent probe amplificationCongenital adrenal hyperplasiaGeneticsMultiplexCopy-number variationExome sequencingBiologyLocus (genetics)DNA sequencingComputational biologyGeneMutationExonGenomeSexual Differentiation and DisordersGenetic and Clinical Aspects of Sex Determination and Chromosomal AbnormalitiesAdrenal Hormones and Disorders