Biological SciencesSubstack

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Bioinformatics, computational biology, and data science updates from the field. Occasional posts on programming.
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Published
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
Author Stephen Turner

A few days ago I wrote about translating R package help documentation using a local LLM (e.g. llama3.x)… …when Mick Watson commented: I was already thinking of wiring up something like this using local AI models — something to summarize podcasts, conference recordings, etc. The relatively new (as of this writing) Gemini 2.0 Flash model will do this for you for YouTube videos. But what if you wanted to do this offline using a local LLM?

Published
Author Stephen Turner

Last week I posted about a web app that turns a GitHub repo into a single text file for LLM-friendly input. This is great for capturing LLM-friendly text from a GitHub repo, but what about any other arbitrary website or PDF? I was catching up on Simon Willison’s newsletter reading about an app he made with Claude artifacts that uses the Jina Reader API to generate Markdown from a website. You don’t need to use the API to do this.

Published
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
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
Author Stephen Turner

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.

Published
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