Estimating the penetrance of pathogenic gene variants in families with missing pedigree information

Accurate assessment of the age-dependent disease risk conferred by germline variants in disease susceptibility genes is often hampered by the way the data are collected. Cohort-based data sets frequently contain an overrepresentation of patients (i.e. carriers of the gene variant of interest affecte...

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Detalles Bibliográficos
Autores principales: Jonker, Marianne A, Rijken, Johannes A, Hes, Frederik J, Putter, Hein, Hensen, Erik F
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2018
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6745609/
https://www.ncbi.nlm.nih.gov/pubmed/30073909
http://dx.doi.org/10.1177/0962280218791338

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6745609/
https://www.ncbi.nlm.nih.gov/pubmed/30073909
http://dx.doi.org/10.1177/0962280218791338

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