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

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

Abstract 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 penetranc...

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Bibliographic Details
Main Authors: Thomas P. Spargo, Sarah Opie-Martin, Harry Bowles, Cathryn M. Lewis, Alfredo Iacoangeli, Ammar Al-Chalabi
Format: Article
Language:English
Published: BMC 2022-12-01
Series:Genome Medicine
Subjects:
Penetrance
Variant
Autosomal dominant
Disease
Familial
Sporadic
Online Access:https://doi.org/10.1186/s13073-022-01142-7

Internet

https://doi.org/10.1186/s13073-022-01142-7

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