A long-read sequencing and SNP haplotype-based novel preimplantation genetic testing method for female ADPKD patient with de novo PKD1 mutation

A long-read sequencing and SNP haplotype-based novel preimplantation genetic testing method for female ADPKD patient with de novo PKD1 mutation

Abstract 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 pat...

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Bibliographic Details
Main Authors: Cuiting Peng, Han Chen, Jun Ren, Fan Zhou, Yutong Li, Yuezhi Keqie, Taoli Ding, Jiangxing Ruan, He Wang, Xinlian Chen, Shanling Liu
Format: Article
Language:English
Published: BMC 2023-09-01
Series:BMC Genomics
Subjects:
Long read sequencing
SNP haplotype
PGT-M
ADPKD
De novo mutation
Online Access:https://doi.org/10.1186/s12864-023-09593-x

Internet

https://doi.org/10.1186/s12864-023-09593-x

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