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DPCformer: An Interpretable Deep Learning Model for Genomic Prediction in Crops
Deng, Pengcheng, Liu, Kening, Zhou, Mengxi, Li, Mingxi, Yang, Rui, Cao, Chuzhe, Wang, Maojun, Zhang, Zeyu
Genomic Selection (GS) uses whole-genome information to predict crop phenotypes and accelerate breeding. Traditional GS methods, however, struggle with prediction accuracy for complex traits and large datasets. We propose DPCformer, a deep learning model integrating convolutional neural networks with a self-attention mechanism to model complex genotype-phenotype relationships. We applied DPCformer to 13 traits across five crops (maize, cotton, tomato, rice, chickpea). Our approach uses an 8-dimensional one-hot encoding for SNP data, ordered by chromosome, and employs the PMF algorithm for feature selection. Evaluations show DPCformer outperforms existing methods. In maize datasets, accuracy for traits like days to tasseling and plant height improved by up to 2.92%. For cotton, accuracy gains for fiber traits reached 8.37%. On small-sample tomato data, the Pearson Correlation Coefficient for a key trait increased by up to 57.35%. In chickpea, the yield correlation was boosted by 16.62%. DPCformer demonstrates superior accuracy, robustness in small-sample scenarios, and enhanced interpretability, providing a powerful tool for precision breeding and addressing global food security challenges.
- Health & Medicine > Pharmaceuticals & Biotechnology (1.00)
- Food & Agriculture > Agriculture (1.00)
HEMERA: A Human-Explainable Transformer Model for Estimating Lung Cancer Risk using GWAS Data
Mahbub, Maria, Klein, Robert J., Selvan, Myvizhi Esai, Yip, Rowena, Henschke, Claudia, Morales, Providencia, Goethert, Ian, Kotevska, Olivera, Shekar, Mayanka Chandra, Wilkinson, Sean R., McAllister, Eileen, Aguayo, Samuel M., Gümüş, Zeynep H., Danciu, Ioana, Program, VA Million Veteran
Lung cancer (LC) is the third most common cancer and the leading cause of cancer deaths in the US. Although smoking is the primary risk factor, the occurrence of LC in never-smokers and familial aggregation studies highlight a genetic component. Genetic biomarkers identified through genome-wide association studies (GWAS) are promising tools for assessing LC risk. We introduce HEMERA (Human-Explainable Transformer Model for Estimating Lung Cancer Risk using GWAS Data), a new framework that applies explainable transformer-based deep learning to GWAS data of single nucleotide polymorphisms (SNPs) for predicting LC risk. Unlike prior approaches, HEMERA directly processes raw genotype data without clinical covariates, introducing additive positional encodings, neural genotype embeddings, and refined variant filtering. A post hoc explainability module based on Layer-wise Integrated Gradients enables attribution of model predictions to specific SNPs, aligning strongly with known LC risk loci. Trained on data from 27,254 Million Veteran Program participants, HEMERA achieved >99% AUC (area under receiver characteristics) score. These findings support transparent, hypothesis-generating models for personalized LC risk assessment and early intervention.
- North America > United States > New York > New York County > New York City (0.04)
- North America > United States > Tennessee > Anderson County > Oak Ridge (0.04)
- North America > United States > Arizona > Maricopa County > Phoenix (0.04)
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- Health & Medicine > Pharmaceuticals & Biotechnology (1.00)
- Food & Agriculture > Agriculture (1.00)
- Government (0.70)
- Energy > Renewable > Biofuel (0.46)
DP-SNP-TIHMM: Differentially Private, Time-Inhomogeneous Hidden Markov Models for Synthesizing Genome-Wide Association Datasets
Single nucleotide polymorphism (SNP) datasets are fundamental to genetic studies but pose significant privacy risks when shared. The correlation of SNPs with each other makes strong adversarial attacks such as masked-value reconstruction, kin, and membership inference attacks possible. Existing privacy-preserving approaches either apply differential privacy to statistical summaries of these datasets or offer complex methods that require post-processing and the usage of a publicly available dataset to suppress or selectively share SNPs. In this study, we introduce an innovative framework for generating synthetic SNP sequence datasets using samples derived from time-inhomogeneous hidden Markov models (TIHMMs). To preserve the privacy of the training data, we ensure that each SNP sequence contributes only a bounded influence during training, enabling strong differential privacy guarantees. Crucially, by operating on full SNP sequences and bounding their gradient contributions, our method directly addresses the privacy risks introduced by their inherent correlations. Through experiments conducted on the real-world 1000 Genomes dataset, we demonstrate the efficacy of our method using privacy budgets of $\varepsilon \in [1, 10]$ at $δ=10^{-4}$. Notably, by allowing the transition models of the HMM to be dependent on the location in the sequence, we significantly enhance performance, enabling the synthetic datasets to closely replicate the statistical properties of non-private datasets. This framework facilitates the private sharing of genomic data while offering researchers exceptional flexibility and utility.
- Europe > United Kingdom > England (0.04)
- Europe > Germany > Saarland > Saarbrücken (0.04)
- Europe > Ireland (0.04)
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- Information Technology > Security & Privacy (1.00)
- Information Technology > Data Science > Data Mining (1.00)
- Information Technology > Biomedical Informatics > Translational Bioinformatics (1.00)
- Information Technology > Artificial Intelligence > Machine Learning > Learning Graphical Models > Undirected Networks > Markov Models (0.90)
Fusing Sequence Motifs and Pan-Genomic Features: Antimicrobial Resistance Prediction using an Explainable Lightweight 1D CNN-XGBoost Ensemble
Siddiqui, Md. Saiful Bari, Tarannum, Nowshin
Antimicrobial Resistance (AMR) is a rapidly escalating global health crisis. While genomic sequencing enables rapid prediction of resistance phenotypes, current computational methods have limitations. Standard machine learning models treat the genome as an unordered collection of features, ignoring the sequential context of Single Nucleotide Polymorphisms (SNPs). State-of-the-art sequence models like Transformers are often too data-hungry and computationally expensive for the moderately-sized datasets that are typical in this domain. To address these challenges, we propose AMR-EnsembleNet, an ensemble framework that synergistically combines sequence-based and feature-based learning. We developed a lightweight, custom 1D Convolutional Neural Network (CNN) to efficiently learn predictive sequence motifs from high-dimensional SNP data. This sequence-aware model was ensembled with an XGBoost model, a powerful gradient boosting system adept at capturing complex, non-local feature interactions. We trained and evaluated our framework on a benchmark dataset of 809 E. coli strains, predicting resistance across four antibiotics with varying class imbalance. Our 1D CNN-XGBoost ensemble consistently achieved top-tier performance across all the antibiotics, reaching a Matthews Correlation Coefficient (MCC) of 0.926 for Ciprofloxacin (CIP) and the highest Macro F1-score of 0.691 for the challenging Gentamicin (GEN) AMR prediction. We also show that our model consistently focuses on SNPs within well-known AMR genes like fusA and parC, confirming it learns the correct genetic signals for resistance. Our work demonstrates that fusing a sequence-aware 1D CNN with a feature-based XGBoost model creates a powerful ensemble, overcoming the limitations of using either an order-agnostic or a standalone sequence model.
- Asia > Bangladesh > Dhaka Division > Dhaka District > Dhaka (0.04)
- North America > United States > New York > New York County > New York City (0.04)
- North America > United States > Arizona (0.04)
- Asia > Singapore (0.04)
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- Overview (0.46)