16 citations · 21 across the 12 of their papers we have counts for
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stat.CO2024★ 1 cited
The penetrance R package for Estimation of Age Specific Risk in Family-based Studies
Nicolas Kubista, Danielle Braun, Giovanni Parmigiani
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 assess…
stat.ME2024★ 1 cited
Adjusting for Ascertainment Bias in Meta-Analysis of Penetrance for Cancer Risk
Thanthirige Lakshika M. Ruberu, Danielle Braun, Giovanni Parmigiani +1
Multi-gene panel testing allows efficient detection of pathogenic variants in cancer susceptibility genes including moderate-risk genes such as ATM and PALB2. A growing number of s…