Article

Short and long-read whole genome sequencing explains most undiagnosed Autosomal Dominant Polycystic Kidney Disease

2023-01-17

Abstract excerpt

<title>Abstract</title> <p>Autosomal Dominant Polycystic Kidney Disease (ADPKD) is the most common monogenic cause of kidney failure and primarily associated with PKD1 or PKD2. Approximately 10% of patients remain undiagnosed after standard genetic testing. We aimed to utilise short and long read genome sequencing and RNA studies to investigate undiagnosed families. Patients with typical ADPKD phenotype and undia...

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Literature Corpus work: 71104a2d-60e8-5fe7-bb50-4aa5434cd6db
DOI: 10.21203/rs.3.rs-2397081/v1

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