AGNES: Adaptive Graph Neural Network and Dynamic Programming Hybrid Framework for Real-Time Nanopore Seed Chaining

Fuente: arXiv
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Main Authors: Arafat, Jahidul, Poudel, Sanjaya
Format: Preprint
Published: 2025
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author Arafat, Jahidul
Poudel, Sanjaya
author_facet Arafat, Jahidul
Poudel, Sanjaya
contents Nanopore sequencing enables real-time long-read DNA sequencing with reads exceeding 10 kilobases, but inherent error rates of 12-15 percent present significant computational challenges for read alignment. The critical seed chaining step must connect exact k-mer matches between reads and reference genomes while filtering spurious matches, yet state-of-the-art methods rely on fixed gap penalty functions unable to adapt to varying genomic contexts including tandem repeats and structural variants. This paper presents RawHash3, a hybrid framework combining graph neural networks with classical dynamic programming for adaptive seed chaining that maintains real-time performance while providing statistical guarantees. We formalize seed chaining as graph learning where seeds constitute nodes with 12-dimensional feature vectors and edges encode 8-dimensional spatial relationships including gap consistency. Our architecture employs three-layer EdgeConv GNN with confidence-based method selection that dynamically switches between learned guidance and algorithmic fallback. Comprehensive evaluation on 1,000 synthetic nanopore reads with 5,200 test seeds demonstrates RawHash3 achieves 99.94 percent precision and 40.07 percent recall, representing statistically significant 25.0 percent relative improvement over baseline with p less than 0.001. The system maintains median inference latency of 1.59ms meeting real-time constraints, while demonstrating superior robustness with 100 percent success rate under 20 percent label corruption versus baseline degradation to 30.3 percent. Cross-validation confirms stability establishing graph neural networks as viable approach for production genomics pipelines.
format Preprint
id arxiv_https___arxiv_org_abs_2510_16013
institution arXiv
publishDate 2025
record_format arxiv
spellingShingle AGNES: Adaptive Graph Neural Network and Dynamic Programming Hybrid Framework for Real-Time Nanopore Seed Chaining
Arafat, Jahidul
Poudel, Sanjaya
Genomics
Machine Learning
92D20, 68T05, 62P10
I.2.6; J.3; H.2.8; I.5
Nanopore sequencing enables real-time long-read DNA sequencing with reads exceeding 10 kilobases, but inherent error rates of 12-15 percent present significant computational challenges for read alignment. The critical seed chaining step must connect exact k-mer matches between reads and reference genomes while filtering spurious matches, yet state-of-the-art methods rely on fixed gap penalty functions unable to adapt to varying genomic contexts including tandem repeats and structural variants. This paper presents RawHash3, a hybrid framework combining graph neural networks with classical dynamic programming for adaptive seed chaining that maintains real-time performance while providing statistical guarantees. We formalize seed chaining as graph learning where seeds constitute nodes with 12-dimensional feature vectors and edges encode 8-dimensional spatial relationships including gap consistency. Our architecture employs three-layer EdgeConv GNN with confidence-based method selection that dynamically switches between learned guidance and algorithmic fallback. Comprehensive evaluation on 1,000 synthetic nanopore reads with 5,200 test seeds demonstrates RawHash3 achieves 99.94 percent precision and 40.07 percent recall, representing statistically significant 25.0 percent relative improvement over baseline with p less than 0.001. The system maintains median inference latency of 1.59ms meeting real-time constraints, while demonstrating superior robustness with 100 percent success rate under 20 percent label corruption versus baseline degradation to 30.3 percent. Cross-validation confirms stability establishing graph neural networks as viable approach for production genomics pipelines.
title AGNES: Adaptive Graph Neural Network and Dynamic Programming Hybrid Framework for Real-Time Nanopore Seed Chaining
topic Genomics
Machine Learning
92D20, 68T05, 62P10
I.2.6; J.3; H.2.8; I.5
url https://arxiv.org/abs/2510.16013