AgriVariant: Variant Effect Prediction using DeepChem-Variant for Precision Breeding in Rice

Fuente: arXiv
Guardado en:
Detalles Bibliográficos
Autores principales: Bisoi, Ankita Vaishnobi, Ramsundar, Bharath
Formato: Preprint
Publicado: 2026
Materias:
Acceso en línea:
Etiquetas: Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!
_version_ 1866908842507370496
author Bisoi, Ankita Vaishnobi
Ramsundar, Bharath
author_facet Bisoi, Ankita Vaishnobi
Ramsundar, Bharath
contents Predicting functional consequences of genetic variants in crop genes remains a critical bottleneck for precision breeding programs. We present AgriVariant, an end-to-end pipeline for variant-effect prediction in rice (Oryza sativa) that addresses the lack of crop-specific variant-interpretation tools and can be extended to any crop species with available reference genomes and gene annotations. Our approach integrates deep learning-based variant calling (DeepChem-Variant) with custom plant genomics annotation using RAP-DB gene models and database-independent deleteriousness scoring that combines the Grantham distance and the BLOSUM62 substitution matrix. We validate the pipeline through targeted mutations in stress-response genes (OsDREB2a, OsDREB1F, SKC1), demonstrating correct classification of stop-gained, missense, and synonymous variants with appropriate HIGH / MODERATE / LOW impact assignments. An exhaustive mutagenesis study of OsMT-3a analyzed all 1,509 possible single-nucleotide variants in 10 days, identifying 353 high-impact, 447 medium-impact, and 709 low-impact variants - an analysis that would have required 2-4 years using traditional wet-lab approaches. This computational framework enables breeders to prioritize variants for experimental validation across diverse crop species, reducing screening costs and accelerating development of climate-resilient crop varieties.
format Preprint
id arxiv_https___arxiv_org_abs_2602_17747
institution arXiv
publishDate 2026
record_format arxiv
spellingShingle AgriVariant: Variant Effect Prediction using DeepChem-Variant for Precision Breeding in Rice
Bisoi, Ankita Vaishnobi
Ramsundar, Bharath
Genomics
Machine Learning
Predicting functional consequences of genetic variants in crop genes remains a critical bottleneck for precision breeding programs. We present AgriVariant, an end-to-end pipeline for variant-effect prediction in rice (Oryza sativa) that addresses the lack of crop-specific variant-interpretation tools and can be extended to any crop species with available reference genomes and gene annotations. Our approach integrates deep learning-based variant calling (DeepChem-Variant) with custom plant genomics annotation using RAP-DB gene models and database-independent deleteriousness scoring that combines the Grantham distance and the BLOSUM62 substitution matrix. We validate the pipeline through targeted mutations in stress-response genes (OsDREB2a, OsDREB1F, SKC1), demonstrating correct classification of stop-gained, missense, and synonymous variants with appropriate HIGH / MODERATE / LOW impact assignments. An exhaustive mutagenesis study of OsMT-3a analyzed all 1,509 possible single-nucleotide variants in 10 days, identifying 353 high-impact, 447 medium-impact, and 709 low-impact variants - an analysis that would have required 2-4 years using traditional wet-lab approaches. This computational framework enables breeders to prioritize variants for experimental validation across diverse crop species, reducing screening costs and accelerating development of climate-resilient crop varieties.
title AgriVariant: Variant Effect Prediction using DeepChem-Variant for Precision Breeding in Rice
topic Genomics
Machine Learning
url https://arxiv.org/abs/2602.17747