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2022年10月20日  |  人类遗传学研究

Application note – HiFi amplicon sequencing for congenital adrenal hyperplasia

In this Application Note, we focus on HiFi sequencing of full-length PCR amplicons spanning the 3.3 kb CYP21A2 and its pseudogene, CYP21A1P. PacBio HiFi reads are long (up to 25 kb) and accurate (99.9%) making them well suited to analyze the complexity of CAH-related pathogenic variants, where gene conversions and chimeric genes are the predominant mutation types.


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