Guidance for estimating penetrance of monogenic disease-causing variants in population cohorts
Author:
Funder
Wellcome Trust
RCUK | Medical Research Council
Diabetes UK
RCUK | MRC | Medical Research Foundation
Publisher
Springer Science and Business Media LLC
Link
https://www.nature.com/articles/s41588-024-01842-3.pdf
Reference87 articles.
1. Claussnitzer, M. et al. A brief history of human disease genetics. Nature 577, 179–189 (2020).
2. Kingdom, R. & Wright, C. F. Incomplete penetrance and variable expressivity: from clinical studies to population cohorts. Front. Genet. 13, 920390 (2022).
3. Roberts, A. M. et al. Towards robust clinical genome interpretation: developing a consistent terminology to characterize disease–gene relationships — allelic requirement, inheritance modes and disease mechanisms. Genet. Med. 26, 101029 (2024).
4. Otto, P. A. & Horimoto, A. R. V. R. Penetrance rate estimation in autosomal dominant conditions. Genet. Mol. Biol. 35, 583–588 (2012).
5. Fry, A. et al. Comparison of sociodemographic and health-related characteristics of UK Biobank participants with those of the general population. Am. J. Epidemiol. 186, 1026–1034 (2017).
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