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Session A: Monday 31 August 12:00-13:30
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Session B: Tuesday 1 September 16:15-17:45
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Session C: Wednesday 2 September 11:30-13:00
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Results
A-ELIXIR.01: Building a community-driven linked knowledge graph for plant specialized metabolism
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Elena Del Pup, Bioinformatics group, Department of Plant Sciences, Wageningen University &
Research, Wageningen, the Netherlands, Netherlands
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Egon Willighagen, Translational Genomics, Maastricht University, Maastricht, the Netherlands, Netherlands
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Kumar Saurabh Singh, Brightlands Future Farming Institute, Maastricht University, the Netherlands,
Netherlands
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Marnix Medema, Bioinformatics group, Department of Plant Sciences, Wageningen University & Research,
Wageningen, the Netherlands, Netherlands
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Denise Slenter, Translational Genomics, Maastricht University, Maastricht, the Netherlands, Netherlands
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Justin van der Hooft, Bioinformatics group, Department of Plant Sciences, Wageningen University &
Research, Wageningen, the Netherlands, Netherlands
Presentation Overview: Show
Plant specialized metabolites are a major source of innovative pharmaceuticals, novel foods, and biobased
natural products. However, resolving the metabolic pathways that biosynthesize these compounds remains a key
scientific challenge, as plant biosynthetic genes are often dispersed and duplicated, resulting in highly
branched, diversified, and promiscuous underlying metabolic networks. Additionally, knowledge of plant
metabolic pathways remains scattered across disconnected resources, with limited interoperable annotations,
and valuable experimental multi-omics datasets remain siloed and underused. Currently, researchers lack an
open, standardized, and reusable AI-ready format for integrating new datasets with community knowledge.
Additionally, there is no framework to systematically link computational evidence from bioinformatics tools
and paired plant transcriptomics-metabolomics datasets to predict or validate pathway-level knowledge. To
address these gaps, we developed the Linked Open Data knowledge graph PlantMetWiki
(https://plantmetwiki.bioinformatics.nl/), the first semantically enriched knowledge base for querying
experimentally validated pathway information for plant biosynthetic reactions across 643 species, including
predictions of biosynthetic gene clusters. PlantMetWiki provides a foundational and extendible framework for
community curation, enabling the future integration of experimental data on predicted biosynthetic pathways.
This extension involves creating a community-supported validation schema to align and integrate multi-omics
datasets, and a scoring method for predictions from multi-omics bioinformatics pipelines, interoperable with
existing standards.
These developments will support an open-source knowledge base and a Linked Open Data community for scalable
community annotation of pathway information, improved integration of multi-omics data, collaborative
hypothesis generation on plant specialized biosynthesis, and prioritization of candidate pathway components of
plant natural products.
A-ELIXIR.02: LongPolyASE: An end-to-end framework for allele-specific gene and isoform analysis in polyploids
using long-read RNA-se
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Nadja Nolte, NIB, Slovenia
- Kristina Gruden, NIB, Slovenia
- Marko Petek, National Insitute of Biology, Slovenia
Presentation Overview: Show
Allele-specific expression analysis can reveal cis-regulatory differences (e.g., promoter variants, epigenetic
changes) that cause imbalanced gene expression between haplotypes. Haplotype-resolved reference genomes and
long-read RNA sequencing enable allele-specific expression analysis at gene and isoform-levels. However,
existing tools are largely restricted to short-read RNA sequencing data and diploid organisms and are
therefore not applicable for polyploid crop species.
We developed LongPolyASE (https://polyase.readthedocs.io/en/latest/), an end-to-end framework for
allele-specific gene and isoform expression analysis in diploid and polyploid organisms using long-read RNA
sequencing. It comprises three components: Syntelogfinder, for identifying syntenic genes across phased
assemblies; longrnaseq, for transcript quantification, novel isoform discovery, and quality control; and
PolyASE, for statistical testing of differential allelic expression, isoform usage, and haplotype-specific
splicing. Applied to Oxford Nanopore RNA-seq data from diploid rice and autotetraploid potato, LongPolyASE
identified cis-regulatory variation, tissue-specific trans-regulatory effects, and novel transcripts with
potential relevance to plant development.
LongPolyASE addresses a methodological gap by enabling allele- and isoform-specific expression analysis in
polyploid organisms. The framework is fully documented, openly available on GitHub and PyPI, and designed for
FAIR and reproducible research. It directly benefits plant researchers working with complex genomes and
supports the identification of regulatory variation and candidate targets in crop breeding.