Search bioRxiv⌕ Search

Biology subjects

Jimeno Yepes, A.

Publications and source records attributed to Jimeno Yepes, A..

3 recordsLinked to original sources

GatorDuo: Global-Consistency Dual-Graph Refinement With Pseudo-Label Agreement for Spatial Transcriptomics

Spatial transcriptomics (ST) measures gene expression together with spatial coordinates, enabling spatial domain identification of coherent tissue regions. Many recent approaches rely on graph-based modeling to combine spatial neighborhoods and transcriptomic (gene-expression) similarity, yet neighborhood construction is often unreliable under sparsity and technical noise. As a result, spurious cross-domain shortcut edges can persist in static graphs and propagate misleading signals during message passing, ultimately blurring domain boundaries and weakening cluster separability. In this paper, we propose GatorDuo, a topology-aware dual-graph contrastive self-supervised framework for robust spatial domain identification that couples gene-expression similarity with spatial proximity through complementary neighborhood graphs. GatorDuo introduces global-consistency-based graph refinement that uses a pseudo-label agreement mask to suppress cross-domain shortcut edges in both views, thus stabilizing neighborhood topology for representation learning. To avoid manual tuning of domain resolution, GatorDuo further employs a contextual bandit reinforcement-learning strategy to adaptively select the clustering granularity (the number of clusters) used for refinement. The refined view-specific embeddings are integrated via a hybrid-routing Mixture-of-Experts (MoE) module to generate a unified embedding, optimized with contrastive objectives augmented by an MoE-alignment term. Across eight public benchmarks spanning sequencing- and imaging-based ST at spot and single-cell resolution, and compared with ten representative baselines, GatorDuo consistently delivers strong and robust spatial domain identification performance across multiple clustering metrics, while yielding informative unified embeddings that can support downstream biological analyses.

bioinformatics↗

A corpus for differential diagnosis: an eye diseases use case

We have created a corpus for the extraction of information related to diagnosis from scientific literature focused on eye diseases. It was shown that the annotation of entities has a relatively large agreement among annotators, which translates into strong performance of the trained methods, mostly BioBERT. Furthermore it was observed that relation annotation in this domain has challenges, which might require additional exploration. When using the trained models on MEDLINE, we could identify confirmed knowledge about the diagnosis of eye diseases and relevant new information, which supports the developments in this work. The corpus that we have developed is publicly available, thus the scientific community is able to reproduce our work and reuse the corpus in their work.

bioinformatics↗

A hybrid approach for automated mutation annotation of the extended human mutation landscape in scientific literature

As the cost of DNA sequencing continues to fall, an increasing amount of information on human genetic variation is being produced that could help progress precision medicine. However, information about such mutations is typically first made available in the scientific literature, and is then later manually curated into more standardized genomic databases. This curation process is expensive, time-consuming and many variants do not end up being fully curated, if at all. Detecting mutations in the literature is the first key step towards automating this process. However, most of the current methods have focused on identifying mutations that follow existing nomenclatures. In this work, we show that there is a large number of mutations that are missed by using this standard approach. Furthermore, we implement the first mutation annotator to cover an extended mutation landscape, and we show that its F1 performance is the same performance as human annotation (F1 78.29 for manual annotation vs F1 79.56 for automatic annotation).

bioinformatics↗