Large Copy-Number Variants in UK Biobank Caused by Clonal Hematopoiesis May Confound Penetrance Estimates

Large copy-number variants (CNVs) are strongly associated with both developmental delay and cancer, but the type of disease depends strongly on when and where the mutation occurred, i.e., germline versus somatic. We used microarray data from UK Biobank to investigate the prevalence and penetrance of...

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Detalhes bibliográficos
Publicado no:Am J Hum Genet
Main Authors: Tuke, Marcus, Tyrrell, Jessica, Ruth, Katherine S., Beaumont, Robin N., Wood, Andrew R., Murray, Anna, Frayling, Timothy M., Weedon, Michael N., Wright, Caroline F.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2020
Assuntos:
Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7413842/
https://ncbi.nlm.nih.gov/pubmed/32574563
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2020.06.001
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