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Recent preprints
Genomic heterogeneity inflates the performance of variant pathogenicity predictions
Baiyu Lu, Xiao Liu, Po‐Yu Lin, Nadav Brandes
The paper evaluates AI models for predicting pathogenic variants, finding that performance is inflated by genomic heterogeneity in pathogenic variant prevalence.
Nature Communications · Oct 30, 2026Peer-reviewedBioinformatics
Fox: Predicting rates of host-symbiont co-evolution events with association-aware attention
Gabriele Di Palma, Laurent Jacob, Catherine Matias, Blerina Sinaimeri
Fox predicts host-symbiont co-evolution event rates directly from sequence alignments without tree reconstruction, achieving high accuracy and speed compared to existing methods.
bioRxiv · Oct 30, 2026 · PreprintBioinformatics
Representation learning of somatic missense mutation landscapes across cancer types
Zelin Wang, Minfang Cai, Zhewen Li, Zhenyu Lin, Yuanyuan Yin, Zhongyan Chen, 严海燕, Zhen Quan, 廖健佑, Yiqing Zheng
This paper introduces MMRL, a framework for learning representations of somatic missense mutations across cancer types, showing improved prognostic discrimination and identification of mutation subtypes.
bioRxiv · Oct 30, 2026 · PreprintBioinformatics
Protein co-scientist aided simulations of the structural and functional impact of O-GlcNAc Transferase TPR domain deletions and amino acid substitutions associated with X-Linked Intellectual Disability
Sonja Barth, Allison Bechard, Amelia Kraft, Chakkai Yip, Caleb Aboagye, Charlie Fehl, Geoffrey Siwo
The paper uses computational methods to model structural and functional impacts of TPR domain deletions and amino acid substitutions in OGT linked to X-Linked Intellectual Disability.
bioRxiv · Oct 30, 2026 · PreprintBioinformatics
RankMap: Rank-based reference mapping for fast and robust cell type annotation in spatial and single-cell transcriptomics
Jinming Cheng, Shengdi Li, Serim Kim, Chow Hiang Ang, Sin Chi Chew, Pierce Kah-Hoe Chow, Nan Liu
RankMap improves cell type annotation in spatial and single-cell transcriptomics by using rank-based representations and multinomial regression, achieving competitive accuracy and faster runtime.
BMC Bioinformatics · Oct 30, 2026Peer-reviewedBioinformatics
SiSaNA: A Python-based command line interface for Single-Sample Network Analysis
Nolan K. Newman, Tatiana Belova, Marieke L. Kuijjer
SiSaNA provides a command line interface for single-sample regulatory network analysis without requiring programming experience.
Bioinformatics · Oct 30, 2026Peer-reviewedBioinformatics
Carrier-Limited Release Risk in Electrospun Nanofibers for Regenerative Endodontics: Constraint Discovery from 25 Formulations
Nura Brimo, Dilek Çökeli̇ler Serdaroğlu
The paper evaluates 25 electrospun PVP fiber formulations for regenerative endodontics, using machine learning to identify constraints and release risks, finding carrier-limited release and recommending further testing.
bioRxiv · Oct 30, 2026 · PreprintBioinformatics
Negative sampling shapes benchmark discrimination and experimental retrieval in synthetic-lethality prediction
The paper evaluates how negative sampling affects synthetic-lethality prediction models, showing that benchmark performance does not reliably predict experimental retrieval success.
bioRxiv · Oct 30, 2026 · PreprintBioinformatics
Kontext: Kernel-based method bridging spatial domain identification and cell-cell communication
Anthony Ozier‐Lafontaine, Nicolas Dray, Paul Villoutreix, Laura Cantini
Kontext identifies spatial domains and cell-cell communication by integrating ligand-receptor interactions, outperforming existing methods in spatial transcriptomics.
bioRxiv · Oct 30, 2026 · PreprintBioinformatics
PatHoST: weakly supervised reconstruction of pathogen spatial distributions from host transcriptomes
Federico Di Marco, Francesca De Nicola, Gaia Saldarini, Daniela Maria Cirillo, Nicola Ivan Lorè, Alex Graudenzi, Stefano de Pretis
PatHoST reconstructs pathogen spatial distributions from host transcriptomes using weakly supervised learning, showing improved detection in both experimental and human SARS-CoV-2 data.
bioRxiv · Oct 30, 2026 · PreprintBioinformatics
VoroTIDE: Protein domain segmentation through independent hierarchical searches using Voronoi tessellation and physical self-containment
VoroTIDE segments protein domains using Voronoi contact areas and self-containment scores, achieving strong performance on benchmark datasets.
bioRxiv · Oct 30, 2026 · PreprintBioinformatics
Multiscale Transcriptomic Architecture of the ALS Motor Cortex
Aadya Goel, Shaojun Pei, Gil Alterovitz
The paper identifies seven subtypes of ALS motor cortex with distinct molecular programs and shows they are organized by genetic and clinical factors rather than disease duration.
bioRxiv · Oct 30, 2026 · PreprintBioinformatics
Mechanistic gene-regulation-based trajectory inference with bowside
Jan Schleicher, Marcello Zago, Manfred Claassen
The paper introduces bowside, a neural model for trajectory inference and gene regulatory network reconstruction in single-cell RNA sequencing data, showing it recovers known regulatory motifs in hematopoiesis and reprogramming.
bioRxiv · Oct 30, 2026 · PreprintBioinformatics
smoothclust: Spatial smoothing and boundary-density summaries for spatial transcriptomics
smoothclust provides a framework for spatial domain analysis in spatial transcriptomics, including a clustering workflow and a boundary density metric to summarize tissue architecture.
bioRxiv · Oct 30, 2026 · PreprintBioinformatics
mock-fastq-generator: A synthetic FASTQ generator
Alberto Florez Prada, Darren J. Hart
mock-fastq-generator creates synthetic FASTQ files for testing bioinformatics pipelines without using biological data.
SoftwareX · Oct 30, 2026Peer-reviewedBioinformatics
Identification of environmental factors and growth stages in the prediction of fibre yield and fibre quality traits in rain-grown cotton
Qian Feng, Pierce Rafter, Iain Wilson, Zitong Li, Warren C. Conaty
The paper identifies environmental factors and growth stages affecting fibre yield and quality in rain-grown cotton using statistical models and field data.
Frontiers in Plant Science · Oct 30, 2026Peer-reviewedBioinformatics
Network analysis reveals converging molecular mechanisms in genetic epilepsies
Yuanyuan Duan, Alexandra Valeanu, Rob P.W. Rouhl, R. Jeroen Vermeulen, Theo M. C. M. de Kok, Friederike Ehrhart
The paper identifies converging molecular pathways in genetic epilepsies through network analysis of epilepsy-associated genes and highlights potential therapeutic targets.
bioRxiv · Oct 30, 2026 · PreprintBioinformatics
Alignment-Free k-mer Analysis Reveals Age-Associated k-mer Signals in Canine Buccal DNA and Cell-Free DNA
Sonya Hu, Giorgia Del Vecchio, Maciej Długosz, Marek Kokot, Sebastian Deorowicz, Matteo A. Pellegrini
This study identifies age-associated k-mer signals in canine buccal and cell-free DNA using alignment-free k-mer analysis and ridge regression models.
bioRxiv · Oct 30, 2026 · PreprintBioinformatics
Assembly of minimally fragmented metagenomic pangenome graphs
Dylan Duchen, Florencia Martino, Kakhangchung Panmei, Abraham Joseph Kandathil, Steven J. Clipman
The paper introduces PANIMaSTA, a method to construct minimally fragmented metagenomic pangenome graphs for highly diverse viral genomes, improving graph topology for comparative analysis.
bioRxiv · Oct 30, 2026 · PreprintBioinformatics