Back

Improving Neural Networks for Genotype-Phenotype Prediction Using Published Summary Statistics

Cui, T.; El Mekkaoui, K.; Havulinna, A. S.; Marttinen, P.; Kaski, S.

2021-11-11 bioinformatics
10.1101/2021.11.09.467937 bioRxiv
Show abstract

Phenotype prediction is a necessity in numerous applications in genetics. However, when the size of the individual-level data of the cohort of interest is small, statistical learning algorithms, from linear regression to neural networks, usually fail due to insufficient data. Fortunately, summary statistics from genome-wide association studies (GWAS) on other large cohorts are often publicly available. In this work, we propose a new regularization method, namely, main effect prior (MEP), for making use of GWAS summary statistics from external datasets. The main effect prior is generally applicable for machine learning algorithms, such as neural networks and linear regression. With simulation and real-world experiments, we show empirically that MEP improves the prediction performance on both homogeneous and heterogeneous datasets. Moreover, deep neural networks with MEP outperform standard baselines even when the training set is small.

Matching journals

The top 4 journals account for 50% of the predicted probability mass.

50% of probability mass above

"Similar papers" are the closest papers from that journal in the model's embedding space. They show what the match is built on, but the ranking comes mostly from a classifier over the whole training set, not from these examples alone.