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Khabre desk
Recent reporting, analysis and explainers from the Bioinformatics desk.
science
A bioRxiv preprint describes LongVerse, a system that uses AI agents to configure a fixed pipeline for haplotype-resolved DNA methylation analysis from Nanopore or PacBio reads. In tests on the HG002 reference genome, the authors report calls identical to a human expert’s and comparisons with bisulfite sequencing.
science
A bioRxiv preprint introduces EpiZoo, a 2.6-billion-parameter model trained on about 20.9 million single cells from multiple species. Its authors report performance on several single-cell analysis tasks and describe applications in comparing regulatory patterns and prioritising cancer mutations.
science
A bioRxiv preprint introduces SPECTRA, a graph-based model that predicts gene-expression responses to CRISPR perturbations by propagating signals through gene regulatory networks. The authors report improved recovery of sparse perturbation-related changes in a large-scale single-cell CRISPRi benchmark.
science
A bioRxiv preprint describes a graph neural network that incorporates viral evolutionary relationships when predicting the host associated with a paramyxovirus sequence. The authors report advantages over unstructured neural networks when training data are sparse, while finding that phylogeny alone explains much of the predictive performance.
science
A bioRxiv preprint introduces ARCHER-LD, a multi-GPU tool for calculating linkage disequilibrium across very large sequencing datasets. The authors report speedups of about eightfold to 28-fold over PLINK in benchmark tests and complete a 10-quadrillion-element LD matrix in under six hours on 512 GPUs.
science
A bioRxiv preprint describes miRstring, a biogenesis-aware RNA language model trained on 77,708 miRNA precursors from 414 species. The authors report cross-species mature-miRNA boundary decoding and artificial miRNA scaffold designs that repressed target mRNAs in validation experiments.
science
A UCSF-led bioRxiv preprint introduces CELL-FM, a bidirectional generative model that connects protein sequences and cellular context with fluorescence microscopy images. The authors use it for virtual localization, motif analysis and mutagenesis of intrinsically disordered peptides.
science
A bioRxiv preprint introduces LucaCell, a foundation model that represents genes through mRNA sequence embeddings instead of fixed gene identifiers. The authors report applications spanning cross-species cell annotation, microbial analysis, chromatin accessibility and influenza infection states.
science
A bioRxiv preprint describes Isocall, a deterministic method for jointly identifying known and novel transcripts across large PacBio long-read RNA-sequencing datasets. The authors report a joint call across 206 samples in 25 minutes after alignment and profiling.