Bayesian approach to determining penetrance of pathogenic SDH variants

BACKGROUND: Until recently, determining penetrance required large observational cohort studies. Data from the Exome Aggregate Consortium (ExAC) allows a Bayesian approach to calculate penetrance, in that population frequencies of pathogenic germline variants should be inversely proportional to their...

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Detalles Bibliográficos
Autores principales: Benn, Diana E, Zhu, Ying, Andrews, Katrina A, Wilding, Mathilda, Duncan, Emma L, Dwight, Trisha, Tothill, Richard W, Burgess, John, Crook, Ashley, Gill, Anthony J, Hicks, Rodney J, Kim, Edward, Luxford, Catherine, Marfan, Helen, Richardson, Anne Louise, Robinson, Bruce, Schlosberg, Arran, Susman, Rachel, Tacon, Lyndal, Trainer, Alison, Tucker, Katherine, Maher, Eamonn R, Field, Michael, Clifton-Bligh, Roderick J
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2018
Materias:
Cancer Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6252366/
https://www.ncbi.nlm.nih.gov/pubmed/30201732
http://dx.doi.org/10.1136/jmedgenet-2018-105427

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