Techniques to Improve Deep Learning for Phenotype Prediction from Genotype Data

Abstract

We show that by representing Single Nucleotide Polymorphism (SNP) data to a neural network in a way that incorporates quality scores and avoids filtering out low quality SNPs we are able to increase the effectiveness of a deep neural network for phenotype prediction from genotype in some cases. We also show that we are able to significantly increase the predictive power of a neural network by making use of transfer learning. We demonstrate these results on a Whole Genome Sequencing (WGS) Neisseria gonorrhoeae dataset where we predict Antimicrobial Resistance (AMR) as well as on an exome sequencing Lens culinaris dataset where we predict 3 growing rate phenotypes.