Article
A long-read sequencing and SNP haplotype-based novel preimplantation genetic testing method for female ADPKD patient with de novo PKD1 mutation.
BMC genomics - 4 Sept 2023
Peng Cuiting, Chen Han, Ren Jun, Zhou Fan, Li Yutong, Keqie Yuezhi, Ding Taoli, Ruan Jiangxing, Wang He, Chen Xinlian, Liu Shanling
Abstract excerpt
The autosomal dominant form of polycystic kidney disease (ADPKD) is the most common hereditary disease that causes late-onset renal cyst development and end-stage renal disease. Preimplantation genetic testing for monogenic disease (PGT-M) has emerged as an effective strategy to prevent pathogenic mutation transmission rely on SNP linkage analysis between pedigree members. Yet, it remains challenging to establish...
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