Bioinformatics sits at the exciting intersection where biology meets data science, using powerful computer tools to decode the vast complexity of living systems. From mapping the human genome to tracking how viruses evolve, this field transforms raw biological information into actionable insights that drive modern medicine and research forward without requiring a supercomputer to understand the basics.

On Gist.Science, we ensure you never miss a breakthrough by processing every new preprint in this category directly from bioRxiv. Our team provides both plain-language explanations and detailed technical summaries for each paper, making cutting-edge discoveries accessible to everyone regardless of their background.

Below are the latest bioinformatics papers added from bioRxiv, ready for you to explore with clarity and depth.

💻 bioinformatics

SC-BIG: A Hierarchical Bayesian Model for Bulk-Informed Single Nucleotide Variant Calling in Single Cells

The paper introduces SC-BIG, a hierarchical Bayesian model that leverages bulk sequencing data to jointly estimate cancer cell fractions and improve the accuracy and uncertainty quantification of somatic SNV detection in single cells, outperforming existing methods in the presence of copy-number alterations and clonal admixtures.

Schuette, D., Kono, T. J. Y., Schwarz, R. F.2026-03-16
💻 bioinformatics

An explanatory benchmark of spatial domain detection reveals key drivers of method performance

This paper presents a comprehensive benchmark of 26 spatial domain detection methods across diverse real and semi-synthetic datasets, revealing that performance is primarily driven by data resolution and cellular heterogeneity rather than architectural novelty, and introduces a modular framework to guide future tool development and selection.

Descoeudres, A., Prusina, T., Schmidt, N., Do, V. H., Mages, S., Klughammer, J., Matijevic, D., Canzar, S.2026-03-16
💻 bioinformatics

High-Fidelity Long-term Whole-embryo Lineage and Fate Reconstruction by Iterative Tracking with Error Correction

This paper introduces ITEC, a fully unsupervised method that achieves high-fidelity, long-term reconstruction of complete cell lineages and fate maps across multiple species by iteratively tracking and correcting errors in terabyte-scale embryonic imaging data.

Wang, M., Zhang, Q., Wang, C., Chi, Y., Zheng, W., Mu, Z., Cao, X., Zhang, W., Yang, B., Schier, A. F., Acedo, J. N., Wa (…)2026-03-16
💻 bioinformatics

Integrative modeling of read depth and B-allele frequency improves single-cell copy number calling from targeted DNA sequencing panels

This paper introduces scPloidyR, a hidden Markov model that jointly analyzes sequencing read depth and B-allele frequency from targeted single-cell DNA panels to significantly improve the accuracy of copy number variation detection compared to depth-only methods, provided that allelic information is available.

Pei, D., Griffard-Smith, R., Cano Urrego, B., Schueddig, E.2026-03-16
💻 bioinformatics

Reinforcement Learning for Antibiotic Stewardship: Optimizing Prescribing Policies Under Antimicrobial Resistance Dynamics

This paper introduces a simulation framework demonstrating that hierarchical reinforcement learning effectively optimizes antibiotic prescribing policies under antimicrobial resistance dynamics by leveraging temporal abstraction and risk stratification to outperform fixed rules and flat RL approaches in complex, partially observable environments.

Lee, J., Blumberg, S.2026-03-16
💻 bioinformatics

Personalized Morphology, Replication Timing, and RNA based Gene Expression Networks for Basal-like and Classical subtyping genes in Pancreatic Adenocarcinoma

This study pioneers the integration of replication-timing proxies derived from methylation data and morphological embeddings into personalized LIONESS gene networks, demonstrating that these epigenetic and structural features significantly enhance the robustness and classification accuracy of basal-like versus classical subtypes in pancreatic adenocarcinoma.

Leyva, A., Niazi, M. K. K.2026-03-16
💻 bioinformatics

PepCABO: Latent-space Bayesian optimization for peptide-MHC binding using contrastive alignment

PepCABO is a novel latent-space Bayesian optimization framework that leverages a dual variational autoencoder with contrastive alignment to efficiently discover high-affinity peptide-MHC binders by enabling structured knowledge transfer across alleles and improving sample efficiency in both low- and high-budget experimental settings.

Ghane, M., Korpela, D., Dumitrescu, A., Lähdesmäki, H.2026-03-16