DeepPheno: A Deep Learning Framework for Linking Hyperspectral Imaging and SNP Genotypes in Lettuce

Abstract

ABSTRACT While whole-genome sequencing captures millions of single nucleotide polymorphisms (SNPs) and hyperspectral imaging (HSI) enables non-destructive plant phenotyping, integrating these modalities to link genotype to phenotype remains challenging due to their high dimensionality and non-linearity. This study presents DeepPheno a deep learning framework that predicts SNP genotypes from HSI data, using model predictability as a proxy for genotype-phenotype association. HSI data were acquired from 194 lettuce genotypes under field conditions. HSI data patches (20×20 pixels × 224 spectral bands) were used to train a hybrid CNN to predict the variant of a specific SNP. The framework was validated on SNPs with known phenotypic effects (anthocyanin, leaf serration, pale pigmentation), achieving high predictive performance (AUC ranging from 0.806 to 0.935), whereas models trained on randomly shuffled labels performed at chance (mean AUC ≈ 0.51). Extending the workflow to 50 randomly selected putatively neutral SNPs, most yielded low predictability, but two showed high performance (AUC > 0.76), suggesting uncharacterized genotype-phenotype links. Explainable AI, including SHAP and Grad-CAM, identified relevant spectral and spatial features driving these predictions, particularly the green and red-edge wavelengths associated with pigment dynamics and leaf structure. These results establish a framework for understanding complex genotype-phenotype interactions in plants and extracting these links from HSI data without predefining the exact trait values. It provides an avenue for high-throughput trait discovery and description and extends the integration of image-based phenomics with plant genetics.

Plant phenotyping relevance

HSIと深層学習を統合し、遺伝子型関連の植物表現型情報を抽出する枠組みを開発・検証しており、フェノタイピング手法が研究の中心です。

Code and data availability

The paper's Data Availability statement deposits authors' code, scripts, and supplementary material in a public GitHub repository, including a downscaled de-identified sample dataset demonstrating the pipeline. The raw HSI/genotype datasets are proprietary under NDA and not public.