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

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 9...

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Detalhes bibliográficos
Publicado no:Eur J Hum Genet
Main Authors: Mallawaarachchi, Amali C, Hort, Yvonne, Cowley, Mark J, McCabe, Mark J, Minoche, André, Dinger, Marcel E, Shine, John, Furlong, Timothy J
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2016
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5110048/
https://ncbi.nlm.nih.gov/pubmed/27165007
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2016.48
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