Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting

More than 100,000 genetic variants are classified as disease causing in public databases. However, the true penetrance of many of these rare alleles is uncertain and might be over-estimated by clinical ascertainment. Here, we use data from 379,768 UK Biobank (UKB) participants of European ancestry t...

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Detalles Bibliográficos
Autores principales: Wright, Caroline F., West, Ben, Tuke, Marcus, Jones, Samuel E., Patel, Kashyap, Laver, Thomas W., Beaumont, Robin N., Tyrrell, Jessica, Wood, Andrew R., Frayling, Timothy M., Hattersley, Andrew T., Weedon, Michael N.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6369448/
https://www.ncbi.nlm.nih.gov/pubmed/30665703
http://dx.doi.org/10.1016/j.ajhg.2018.12.015

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6369448/
https://www.ncbi.nlm.nih.gov/pubmed/30665703
http://dx.doi.org/10.1016/j.ajhg.2018.12.015

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