I'm still catching up on papers from my late 2024 backlog. This week’s recap highlights a browser application for visualizing pathogen dispersal, a DNA language model evaluation benchmark on regulatory DNA, regularized ensemble polygenic risk prediction with GWAS summary statistics, multimodal analysis of RNA-seq data for complex trait genetics, and a deep dive on blastp’s E-value.
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.
Happy New Year! I’m still catching up on papers from my late 2024 backlog.
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.
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
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
This week’s recap highlights pangenome graph construction with nf-core/pangenome, building pangenome graphs with PGGB, benchmarking algorithms for single-cell multi-omics prediction and integration, RNA foundation models, and a Nextflow pipeline for characterizing B cell receptor repertoires from non-targeted bulk RNA-seq data.
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
This week's recap highlights a new pipeline for metagenome quality assessment and taxonomic annotation (MAGFlow &
This week’s recap highlights protein design with RoseTTAFold, surveillance with wastewater sequencing, T2T human genomes, Vitessce for visualization of multimodal spatial single-cell data, and Taxometer for taxonomic classification of metagenomics contigs.