16 citations · 21 across the 12 of their papers we have counts for
13 papers
A web-based user interface for Fam3PRO, a multi-gene, multi-cancer risk prediction model for families with cancer history
Xueying Chen, Jianfeng Ke, Lauren Flynn +2
Purpose: Hereditary cancer risk is key to guiding screening and prevention strategies. Cancer risks can vary by individual due to the presence or absence of high- and moderate-risk…
BreakLoops: A New Feature for the Multi-Gene, Multi-Cancer Family History-Based Model, Fam3Pro
Nicolas Kubista, Ryan Hernandez-Cancela, Jianfeng Ke +4
Previously, we presented PanelPRO, now known as Fam3PRO, an open-source R package for multi-gene, multi-cancer risk modeling with pedigree data. The initial release could not handl…
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…
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…
Bayesian Meta-Analysis of Penetrance for Cancer Risk
Thanthirige Lakshika M. Ruberu, Danielle Braun, Giovanni Parmigiani +1
Multi-gene panel testing allows many cancer susceptibility genes to be tested quickly at a lower cost making such testing accessible to a broader population. Thus, more patients ca…
SNIP: An Adaptation of Sorted Neighborhood Methods for Deduplicating Pedigree Data
Theodore Huang, Matthew Ploenzke, Danielle Braun
Pedigree data contain family history information that is used to analyze hereditary diseases. These clinical data sets may contain duplicate records due to the same family visiting…