42 citations · 145 across the 28 of their papers we have counts for
4 papers · 1 filter
Ask2Me VarHarmonizer: A Python-Based Tool to Harmonize Variants from Cancer Genetic Testing Reports and Map them to the ClinVar Database
Yuxi Liu, Kanhua Yin, Basanta Lamichhane +18
PURPOSE: The popularity of germline genetic panel testing has led to a vast accumulation of variant-level data. Variant names are not always consistent across laboratories and not…
Merging versus Ensembling in Multi-Study Prediction: Theoretical Insight from Random Effects
Zoe Guan, Giovanni Parmigiani, Prasad Patil
A critical decision point when training predictors using multiple studies is whether studies should be combined or treated separately. We compare two multi-study prediction approac…
Using Machine Learning and Natural Language Processing to Review and Classify the Medical Literature on Cancer Susceptibility Genes
Yujia Bao, Zhengyi Deng, Yan Wang +9
PURPOSE: The medical literature relevant to germline genetics is growing exponentially. Clinicians need tools monitoring and prioritizing the literature to understand the clinical…
The Fuzzy ROC
Giovanni Parmigiani
The fuzzy ROC extends Receiver Operating Curve (ROC) visualization to the situation where some data points, falling in an indeterminacy region, are not classified. It addresses two…