TOGGLE delineates fate and function within individual cell types via single cell transcriptomics

This paper introduces TOGGLE, a self-supervised graph diffusion framework that leverages deep learning and reinforcement-guided clustering to delineate fine-grained functional heterogeneity and predict cell fate within transcriptionally similar populations, successfully identifying distinct neuronal states in ischemic stroke and epigenetic memory in neural stem cells without prior labels.

Chen, J., Sun, T., Song, T. + 22 more2026-03-27💻 bioinformatics

Strain-specific structural variant landscapes shape mutation retention following mutagenesis in Caenorhabditis elegans

This study reveals that in *Caenorhabditis elegans*, strain-specific structural variant architectures significantly influence mutation retention dynamics following mutagenesis, with higher outcrossing rates paradoxically leading to greater structural variant burdens and reduced purging of deleterious mutations.

Kapila, R., Saber, S., Verma, R. K. + 3 more2026-03-27💻 bioinformatics

The Tiling Algorithm - A general method for structural characterization of accurate long DNA sequence reads: application to AAV genome sequences.

This paper introduces the Tiling Algorithm, a reference-free method for characterizing the structural diversity and minor species of Adeno-associated virus (AAV) genomes using accurate long-read sequencing data, thereby overcoming the limitations of alignment-based approaches in handling AAV-specific challenges like inverted terminal repeats and replication artifacts.

Bruccoleri, R. E., Rouleau, D., Slater, C. + 5 more2026-03-27💻 bioinformatics

Adversarial erasing enhanced multiple instance learning (siMILe): Discriminative identification of oligomeric protein structures in single molecule localization microscopy

The paper introduces siMILe, a weakly-supervised multiple instance learning method enhanced by adversarial erasing that enables the discriminative identification of condition-specific oligomeric protein structures from 3D single-molecule localization microscopy data without requiring structure-level supervision.

Hallgrimson, C. D., Li, Y. L., Shou, C. A. + 6 more2026-03-27💻 bioinformatics

Near perfect identification of half sibling versus niece/nephew avuncular pairs without pedigree information or genotyped relatives

This paper presents a novel genotype-only computational framework that achieves near-perfect classification of half-sibling versus niece/nephew pairs by leveraging across-chromosome phasing and haplotype-level sharing features, thereby resolving a critical ambiguity in large-scale genomic biobanks without requiring pedigree information.

Sapin, E., Kelly, K., Keller, M. C.2026-03-27💻 bioinformatics

Horse, not zebra: accounting for lineage abundance in maximum likelihood phylogenetics

This paper introduces two maximum likelihood methods that incorporate lineage abundance priors—interpreting multifurcations as unresolved signals of common strains or modeling sequencing rates proportional to prevalence—to significantly improve the accuracy of phylogenetic inference for rapidly evolving pathogens like SARS-CoV-2 by prioritizing the placement of sequences onto common ("horse") rather than rare ("zebra") lineages.

De Maio, N.2026-03-27💻 bioinformatics