Year: 2024
Type: article
Abstract: Motivation: Reliable tools and software for penetrance (age-specific risk among those who carry a genetic variant) estimation are critical to improving clinical decision making and risk assessment for hereditary syndromes. However, there is a lack of easily usable software for penetrance estimation in family-based studies that implements a Bayesian estimation approach. Results: , an open-source R package available on CRAN, to estimate age-specific penetrance using family-history pedigree data. The package uses a Bayesian estimation approach, allowing for the incorporation of prior knowledge through the specification of priors for the parameters of the carrier distribution. It also includes options to impute missing ages during the estimation process, addressing incomplete age information which is not uncommon in pedigree datasets. Our open-source software provides a flexible and user-friendly tool for researchers to estimate penetrance in complex family-based studies, facilitating improved genetic risk assessment in hereditary syndromes. Availability and implementation: package is freely available on CRAN. Source code and documentation are available at https://github.com/nicokubi/penetrance.
Source: Bioinformatics Advances
Institutions: Harvard University, Dana-Farber Cancer Institute
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $2,917
OpenAlex ID: W4412105723