September 2021 Extending models via gradient boosting: An application to Mendelian models
Theodore Huang, Gregory Idos, Christine Hong, Stephen B. Gruber, Giovanni Parmigiani, Danielle Braun
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Ann. Appl. Stat. 15(3): 1126-1146 (September 2021). DOI: 10.1214/21-AOAS1482

Abstract

Improving existing widely-adopted prediction models is often a more efficient and robust way toward progress than training new models from scratch. Existing models may: (a) incorporate complex mechanistic knowledge, (b) leverage proprietary information, and (c) have surmounted barriers to adoption. Compared to model training, model improvement and modification receive little attention. In this paper we propose a general approach to model improvement: we combine gradient boosting with any previously developed model to improve model performance while retaining important existing characteristics. To exemplify, we consider the context of Mendelian models which estimate the probability of carrying genetic mutations that confer susceptibility to disease by using family pedigrees and health histories of family members. Via simulations, we show that integration of gradient boosting with an existing Mendelian model can produce an improved model that outperforms both that model and the model built using gradient boosting alone. We illustrate the approach on genetic testing data from the USC–Stanford Cancer Genetics Hereditary Cancer Panel (HCP) study.

Funding Statement

This work was supported by the NCI at the NIH Grants 5T32CA009337-32, 4P30CA006516-51 and T32CA009001; Myriad Genetics, Inc.; NIH Grant Awards KL2TR000131 and P30CA014089; the Anton B. Burg Foundation; the Jane & Kris Popovich Chair in Cancer Research, and a gift from Daniel and Maryann Fong.

Acknowledgments

We would like to thank Jane Liang for her help in cleaning the USC–Stanford HCP data and for providing code to generate families. We would also like to thank two anonymous referees for their valuable comments and suggestions that led to meaningful improvements in the quality of this paper, especially with regards to the metrics used to evaluate model performance.

Citation

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Theodore Huang. Gregory Idos. Christine Hong. Stephen B. Gruber. Giovanni Parmigiani. Danielle Braun. "Extending models via gradient boosting: An application to Mendelian models." Ann. Appl. Stat. 15 (3) 1126 - 1146, September 2021. https://doi.org/10.1214/21-AOAS1482

Information

Received: 1 August 2019; Revised: 1 September 2020; Published: September 2021
First available in Project Euclid: 23 September 2021

MathSciNet: MR4317404
zbMATH: 1478.62329
Digital Object Identifier: 10.1214/21-AOAS1482

Keywords: gradient boosting , Mendelian model , risk model

Rights: Copyright © 2021 Institute of Mathematical Statistics

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Vol.15 • No. 3 • September 2021
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