Article

OGM and WES Identifies Translocation Breakpoints in PKD1 Gene in an Polycystic Kidney Patient and Healthy Baby Delivered Using PGT

2023-06-27

Abstract excerpt

<h4>Background: </h4> Whole exome sequencing (WES) is a routine tool for diagnostic confirmation of genetic diseases. Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common autosomal dominant genetic diseases and WES was usually performed to confirm the clinical diagnosis in ADPKD. Reciprocal translocation is the most common chromosomal structural abnormalities and the most carriers have no...

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Literature Corpus work: 1bc27879-8cc8-5a68-a973-ce97ec18b4f4
DOI: 10.21203/rs.3.rs-3045034/v1

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