Calculating variant penetrance from family history of disease and average family size in population-scale data

BACKGROUND: Genetic penetrance is the probability of a phenotype when harbouring a particular pathogenic variant. Accurate penetrance estimates are important across biomedical fields including genetic counselling, disease research, and gene therapy. However, existing approaches for penetrance estima...

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Detalles Bibliográficos
Autores principales: Spargo, Thomas P., Opie-Martin, Sarah, Bowles, Harry, Lewis, Cathryn M., Iacoangeli, Alfredo, Al-Chalabi, Ammar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Method
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9753373/
https://www.ncbi.nlm.nih.gov/pubmed/36522764
http://dx.doi.org/10.1186/s13073-022-01142-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9753373/
https://www.ncbi.nlm.nih.gov/pubmed/36522764
http://dx.doi.org/10.1186/s13073-022-01142-7

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