MDVarP: modifier ~ disease-causing variant pairs predictor.

ABSTRACT:

Background

Modifiers significantly impact disease phenotypes by modulating the effects of disease-causing variants, resulting in varying disease manifestations among individuals. However, identifying genetic interactions between modifier and disease-causing variants is challenging.

Results

We developed MDVarP, an ensemble model comprising 1000 random forest predictors, to identify modifier ~ disease-causing variant combinations. MDVarP achieves high accuracy and precision, as verified using an independent dataset with published evidence of genetic interactions. We identified 25 novel modifier ~ disease-causing variant combinations and obtained supporting evidence for these associations. MDVarP outputs a class label ("Associated-pair" or "Nonrelevant-pair") and two prediction

SUBMITTER: Sun H 

PROVIDER: S-EPMC11460193 | biostudies-literature | 2024 Oct

REPOSITORIES: biostudies-literature