Rogue Scholar Posts

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Published in Paired Ends
Author Stephen Turner

I'm still catching up on papers from my late 2024 backlog. This week’s recap highlights autonomous microbial sensors for detecting TNT in soil, genome size estimation from long reads, STABIX for indexing and compressing GWAS summary statistics, and Clair3-RNA for deep learning-based small variant calling on long-read RNA-seq data.

Published in quantixed

Another year, another edition of “the papers I selected for a module that I teach”. Previous selections are grouped here or here. The list serves as a snapshot of interesting papers published in the previous 12 months or so. I hope it is useful to others who are looking for lists of papers to read, for student selections or for anything else.

Published in Paired Ends
Author Stephen Turner

This week’s recap highlights the Evo model for sequence modeling and design, biomedical discovery with AI agents, improving bioinformatics software quality through teamwork, a new tool from Brent Pedersen and Aaron Quinlan (vcfexpress) for filtering and formatting VCFs with Lua expressions, a new paper about the NHGRI-EBI GWAS Catalog, and a review paper on designing and engineering synthetic genomes.

Published in Paired Ends
Author Stephen Turner

This week’s recap highlights a new way to turn Nextflow pipelines into web apps, DRAGEN for fast and accurate variant calling, machine-guided design of cell-type-targeting cis-regulatory elements, a Nextflow pipeline for identifying and classifying protein kinases, a new language model for single cell perturbations that integrates knowledge from literature, GeneCards, etc., and a new method for scalable protein design in a relaxed sequence

Published in Paired Ends
Author Stephen Turner

This week’s recap highlights the WorkflowHub registry for computational workflows, building a virtual cell with AI, a review on bioinformatics methods for prioritizing causal genetic variants in candidate regions, a benchmarking study showing deep learning methods are best for variant calling in bacterial nanopore sequencing, and a new ML model from researchers at Genentech for predicting cell-type- and condition-specific gene expression across

Published in Paired Ends
Author Stephen Turner

This week’s recap highlights an AI agent for automated multi-omic analysis (AutoBA), rapid species-level metagenome profiling and containment (sylph), a review on genome-wide association analysis beyond SNPs, private information leakage from scRNA-seq count matrices, and a method to “unlearn” viral knowledge in protein language models as a means to develop safe PLM-based variant effect analysis (PROEDIT). Others that caught my attention include