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Article

Whole-genome sequencing overcomes pseudogene homology to diagnose autosomal dominant polycystic kidney disease.

European journal of human genetics : EJHG - 1 Nov 2016

Mallawaarachchi Amali C, Hort Yvonne, Cowley Mark J, McCabe Mark J, Minoche André, Dinger Marcel E, Shine John, Furlong Timothy J

Abstract excerpt

Autosomal dominant polycystic kidney disease (ADPKD) is the most common monogenic kidney disorder and is due to disease-causing variants in PKD1 or PKD2. Strong genotype-phenotype correlation exists although diagnostic sequencing is not part of routine clinical practice. This is because PKD1 bears 97.7% sequence similarity with six pseudogenes, requiring laborious and error-prone long-range PCR and Sanger...

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Source

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Identifiers

PMID: 27165007
DOI: 10.1038/ejhg.2016.48
PMCID: PMC5110048

Genes

PKD1
PKD2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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