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

Moving from Google Docs to Word will break your Zotero citations/bibliography linkages unless you do this first.

Switching word processors with Zotero

Use the constructive package instead of dput() to construct R objects with idiomatic R code for human-readable reproducible examples

Construct objects with idiomatic R code

R updates (from rOpenSci, Blaze, R Works, RWeekly, Posit), Slidecrafting, AI highs &amp;

Weekly recap (Oct 3, 2025)

Polyglot data science pipeline (R+Python+Julia) with rixpress, EuroBioC2025/BCN, Python packaging for R devs, Python in 2025, R/Pharma, DARPA, ASHG, the R Data Scientist, Quarto, universities and AI

Weekly recap (Oct 24, 2025)

Successively clicking the first link in a Wikipedia article almost always leads to Philosophy

All Roads Lead to Philosophy

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.

Stephen Turner

Autonomous microbial sensors for detecting TNT in soil, genome size estimation from long reads, indexing + compressing GWAS summary stats, Clair3-RNA for small variant calling on long-read RNA-seq...

Weekly Recap (Jan 2025 part 2)

AI x biosecurity, R updates (Blaze, RWeekly, R Consortium), genome engineering &amp; conservation, AI &amp;

Weekly recap (Oct 10, 2025)

This week’s recap highlights compendium of human gene functions derived from evolutionary modelling from the Gene Ontology Consortium, an AI reasoning model applied to rare disease diagnosis, an agentic AI for scRNA-seq data exploration, and applying FAIR principles to scientific workflows.

Comprehensive evolutionary modeling of human gene function, an AI reasoning model for rare disease diagnosis, an AI agent for scRNA-seq data exploration, FAIR scientific workflows, ...

Weekly Recap (May 2025, part 2)

Positron allows you to export dplyr/SQL code for actions you take in the data explorer (like sorting and filtering)

Positron: data explorer exports dplyr code

RAND Report: Why biology still favors the offense in biosecurity

Asymmetries in Biosecurity

Most graduate students propose to do too much

Bioconductor on GPUs, tidyomics, Quarto 1.8, Anthropic red-teaming on AIxBio, PGS in the clinic, Shock Doctrine in genome engineering, GenAI for data viz with R, Datapalooza, 4 compact rejections

Weekly recap (Oct 17, 2025)

Last year I wrote a post describing an R package I put together that fetches recent bioRxiv preprints from a given subject and summarizes them in a couple of sentences using a local LLM running through Ollama:  That tool has a limitation in that it’s using the bioRxiv RSS feed to pull recent paper titles and abstracts, and the RSS feeds currently only provide the 30 most recent preprints in each subject area.

Collect metadata and publication details for &gt;200k preprints over a 10 year period, investigate trends, and scrape full text for sentiment analysis

Exploring the bioRxiv API with R, httr2, rvest, tidytext, and Datawrapper

Cite:

Stephen Turner. “Learning in Public.”

 Paired Ends

(2024). DOI: https://doi.org/10.59350/xwgsf-nj906. I wrote my first public blog post in 2009. I started Getting Genetics Done to share what I was learning at the end of my PhD/postdoc through my first few years as faculty.

A short essay on writing about what you're learning

Learning in Public

This week’s recap highlights a new multispecies codon optimization method, personalized pangenome references with vg, a commentary on the wild west of spike-in normalization, a new pipeline for comprehensive and scalable polygenic scoring across ancestrally diverse populations, a paper showing deep learning / transformer-based methods don’t outperform simple linear models for predicting gene expression after genetic perturbations, and finally, a

What I'm reading this week on multispecies codon optimization, personalized pangenome references, spike-in normalization, automating polygenic scoring, transformers vs linear models, bactoneurons, ...

Weekly Recap (Oct 2024, part 1)

karyoploteR

is an R package that’s been in Bioconductor for nearly a decade. It lets you create linear chromosomal representations of any genome with genomic annotations and experimental data plotted along them.

 Bioconductor

: https://bioconductor.org/packages/karyoploteR/

 Tutorial

: https://bernatgel.github.io/karyoploter_tutorial/

 Paper

: Bernat Gel &amp; Eduard Serra. (2017).

Demos plotting genome density, per-base coverage, structural variation, GWAS Manhattan plots, combine multiple data types, gene expression results from DESeq2, epigenetic regulation from ENCODE

Plot Data Along a Genome with karyoploteR

This post expands on a few of the papers I posted in this Twitter thread. I highlight a few in the deep dive at the top, then link to a few other papers of note later on. Subscribe to Paired Ends to get summaries like this delivered to your e-mail as soon as I write them. Subscribe now You might remember me from Getting Genetics Done where I blogged about genetics, statistics, and bioinformatics from 2008-2017.

What I’m reading this week in synthetic biology, population genetics, AI in genomics/bioinformatics, pangenomes, and more

What I'm reading (July 2024, part 2)

Happy New Year! I’m still catching up on papers from my late 2024 backlog.

Directed evolution by a protein language model, AI learning to run transcript assemblers, a review/introduction to pangenomics, Alphafold2 refinement for protein design, metagenomic binning...

Weekly Recap (Jan 2025, part 1)

This week’s recap highlights Verkko2 for T2T genome assembly, the GPN-MSA DNA language model trained on multispecies alignments for variant effect prediction that outperforms other methods like CADD, ESM-1b, phyloP, phastCons, nucleotide transformer, and HyenaDNA, fast orthology inference with FastOMA, a foundation model of transcription across cell types, and engineering CRISPR-Cas PAM sites using deep learning.

T2T assembly, DNA language models for variant effect analysis, ortholog inference at scale, a foundation model of transcription across cell types, engineering PAM recognition, &amp; a few great reviews...

Weekly Recap (Feb 2025, part 3)

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.

Visualizing pathogen dispersal, DNA language model benchmarks for regulatory DNA, polygenic risk prediction with GWAS summary stats, multimodal analysis of RNA-seq data, blastp's E-value, ...

Weekly Recap (Jan 2025 part 3)

This week’s recap highlights analysis of human de novo mutation rates from a four-generation pedigree reference, how LLMs internalize scientific literature and citation practices, the py_ped_sim forward pedigree and genetic simulator for complex family pedigree analysis, and a review on predicting gene expression from DNA sequence using deep learning models like Enformer and Borzoi.

De novo mutation rates from a 4-gen pedigree, how LLMs internalize scientific literature, pedigree and genetic data simulations, a review on predicting gene expression from DNA sequence using LLMs...

Weekly Recap (Aug 2025, part 3)

I liked Steve Krouse’s essay, “Vibe code is legacy code.” It helped crystalize some half-baked thoughts I have on vibe coding. Here’s an excerpt.Subscribe now

 Maintainability and vibe are inversely correlated

I’ve been using GitHub copilot and chatbots for code for years, and I’ve written about them a lot here.

Vibe code is legacy code

This week’s recap highlights a new method for gene-level alignment of single-cell trajectories, an R package for integrating gene and protein identifiers across biological sequence databases, characterization of SVs across humans and apes, universal prediction of cellular phenotypes, a method to quantify cell state heritability versus plasticity and infer cell state transition with single cell data, and a new AI-driven, natural language-oriented

Gene-level alignment of scRNA-seq trajectories, integrating identifiers across databases, SVs in humans and apes, universal prediction of cellular phenotypes, and a bioinformatics analysis chatbot

Weekly Recap (Oct 2024, part 2)

This week’s recap highlights the new Datavzrd tool for interactive visualization and communication of tabular data (I’m genuinely really looking forward to trying this one), tracing the shared foundations of gene expression and chromatin structure, PISA for visualizing cis-regulatory rules in genomic data, fast protein structure searching using structure graph embeddings, and a review/perspective on intrinsically disordered regions as

Interactive visualization of tabular data, shared foundations of gene expression and chromatin structure, fast protein structure searching with graph embeddings, visualizing cis-regulatory rules, ...

Weekly Recap (June 2025, part 2)

This week’s recap highlights the Rust-based wgatools for manipulating alignments and visualizing in the terminal, the nf-core scnanoseq Nextflow pipeline for ONT scRNA-seq, sawfish for better SV discovery and genotyping with long reads, the BINSEQ high-performance binary formats for nucleotide sequence data, and a unified analysis of atlas single-cell data.

Rust-based wgatools for alignment manipulation &amp;

Weekly Recap (July 2025, part 1)

Recap of the first R User Group event in Charlottesville VA

Charlottesville R Users

AI-generated genomes, R news for my posit::conf() FOMO, biosecurity, mirror life, teaching and AI, ELSI for AI, in defense of CRAN, Anthropic Economy Index, OpenAI report on how people use ChatGPT

Weekly recap (Sep 19, 2025)

I am in the middle of writing a review / perspectives paper. One that I’m confident will be exciting once we get it published. Some sections of the review cover subject matter at the outer periphery of my expertise.

Listen now | Inciteful with the Zotero plugin is the perfect combo for filling in gaps in your knowledge of the literature in a particular field. BioloGPT and Semantic Scholar are useful too.

Inciteful+Zotero to find relevant literature

It’s a short week here in the US. As I reflect on the tools that shape modern bioinformatics and data science it’s striking to see how far we’ve come in the 20 years I’ve been in this field. Today’s ecosystem is rich with tools that make our work faster, better, enjoyable, and increasingly accessible.

Data science and bioinformatics tech I'm thankful for in 2024: tidyverse, RStudio, Positron, Bluesky, blogs, Quarto, bioRxiv, LLMs for code, Ollama, Seqera Containers, StackOverflow, ...

Tech I'm thankful for (2024)

I started my academic career in biomedical research as faculty in the University of Virginia (UVA) School of Medicine. After eight years I jumped to industry &amp;

Some personal news: I'm joining the University of Virginia as Associate Professor of Data Science and Assistant Dean of Research in UVA's new School of Data Science.

Returning to Academia: UVA Data Science

This week’s recap highlights nanoMDBG for metagenome assembly from nanopore reads, the SCassist AI-based workflow for single-cell analysis, discovery and characterization of GxE and GxG effects in a vertebrate model, the PIGEON framework for estimating gene-environment interaction for polygenic traits, and long-read alignment with multi-level parallelism.

Metagenome assembly from nanopore reads, AI for single-cell analysis, GxE + epistasis in a vertebrate model, estimating GxE for polygenic traits, long-read alignment, agents, nf-core, ...

Weekly Recap (Aug 2025, part 2)

This post is inspired by the Bluesky Network Analyzer made by @theo.io.

I’m encouraging everyone I know online to join the scientific community on Bluesky. In that post I link to several starter packs — lists of accounts posting about a topic that you can follow individually or all at once to start filling out your network. I started following accounts of people I knew from X and from a few starter packs I came across.

Find people followed by the people you follow, but who you don't follow, using R and the atrrr package

Expand your Bluesky network with R

This week's recap highlights a new pipeline for metagenome quality assessment and taxonomic annotation (MAGFlow &amp;

Nextflow for metagenomics QA &amp; taxonomic classification, SNP/SV benchmarking, SNV calling with nanopore data, assembly polishing with transformers, Nextflow for variant simulation &amp; evaluation, ...

Weekly Recap (Nov 2024, part 1)

I just returned from a week in Barcelona where I attended the Nextflow Summit and nf-core hackathon, and I can hardly contain my excitement for the near term future of bioinformatics, computational biology, and open science in general.

Highlights from the 2024 Nextflow Summit and nf-core hackathon in Barcelona

Nextflow Summit Barcelona 2024

TL;DR
 
 : For a very simple analysis (means by group on 100M rows), duckdb was 125x faster than base R, and 28x faster than readr+dplyr, without having to read data from disk into memory. The duckplyr package wraps DuckDB's analytical query processing techniques in a dplyr-compatible API. Learn more at duckdb.org/docs/api/r and duckplyr.tidyverse.org.

I wanted to see for myself what the fuss was about with DuckDB.

Using DuckDB in R to analyze 100 million rows of data in 3 seconds

DuckDB vs dplyr vs base R

It’s been a big week in the genomics+bioinformatics space. This post expands on a few of the recent papers I posted in a Twitter thread. I highlight a few in the deep dive at the top, then link to a few other papers of note later on. Subscribe (free!) to Paired Ends to get summaries like this delivered to your e-mail as soon as I write them.

What I'm reading this week in SV analysis with long reads, spatial transcriptomics, gene prediction and annotation, synthetic biology, AI in genomics &amp;

What I'm reading (Aug 2024, part 1)

Anyone reading this newsletter has surely used the frontier models like ChatGPT, Claude, and Gemini. I’ve written a few posts about using

 local

models but haven’t really talked much about the tools I use to directly interact with these models. Those previous posts interact with local models using tools like ellmer in R or my own biorecap package which interacts with a locally running Ollama server.

Running local LLMs with Ollama, LMStudio, Open WebUI, and others for private and secure chat, vibe coding, image analysis, and "chat with your documents" using RAG

GUIs for Local LLMs with RAG

I originally wrote and published this essay at The Connected Ideas Project, an excellent newsletter by my good friend and colleague Alexander Titus. If you’re not reading TCIP you’re missing out.

After I finished my postdoc I was faculty in academia for eight years before moving to a consulting firm for five years, then joined a biotech startup two years ago.

Thoughts and advice on transitioning from a career in academia to industry biotech. 2.4k words, 11 minute reading time.

Moving from academia to biotech

This week’s recap highlights a new Nextflow workflow for calculating polygenic scores with adjustments for genetic ancestry, a paper demonstrating that whole exome plus imputation on more samples is more powerful than whole genome sequencing for finding more trait associated variants, a new deep-learning-based splice site predictor that improves spliced alignments, a new method for accurate community profiling of large metagenomic datasets, and

Nextflow workflow for polygenic scoring, WES+imputation &gt; WGS, DL method for splice site prediction, metagenomics profiling, and a new NIST/GIAB matched tumor-normal with 13 sequencing modalities

Weekly Recap (Oct 2024, part 3)

The Baader–Meinhof phenomenon (aka the frequency illusion) is the name for that thing that happens when you buy a new car, and suddenly you notice that same model car everywhere you drive.

Something a little different this week: book recommendations! De-extinction is a common theme across a few of the fiction and nonfiction books I read this year.

What I'm reading: de-extinction edition

There was a time in late 2023 to early 2024 when I and probably many others in the R community felt like R was falling woefully behind Python in tooling for development using AI and LLMs. This is no longer the case. The R community, and Posit in particular, have been on an absolute tear bringing new packages online to take advantage of all the capabilities that LLMs provide.

Python isn't the only game in town anymore: R can interact with local and cloud LLM APIs, inspect and modify your local R environment and files, implement RAG, computer vision, NLP, evals, &amp;

The Modern R Stack for Production AI

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

WorkflowHub computational workflow registry, building a virtual cell with AI, bioinformatics for prioritizing causal variants, DL methods for nanopore variant calling, predicting gene expression, ...

Weekly Recap (Dec 2024, part 1)

Llama 3.1 405B is the first open-source LLM on par with frontier models GPT-4o and Claude 3.5 Sonnet. I’ve been running the 70B model locally for a while now using Ollama + Open WebUI, but you’re not going to run the 405B model on your MacBook.

How to create and deploy a free GPT4-class chatbot on HuggingFace Assistants for any GitHub repo, using an R package as an example, in less than 60 seconds

Create a free Llama 3.1 405B-powered chatbot on a GitHub repo in &lt;1 min

This is an experiment... ignore this post

Paired Ends Podcast

Apple gets into protein folding, parsing R/Markdown and Quarto, vibe-coding an R package, AI in biosecurity and writing, nothing about AI is inevitable, conservation applications of de-extinction tech

Weekly recap (Sep 26, 2025)

Today I learned you can create and customize ggplot2 visualizations using your voice alone.

Voice control ggplot2 with ggbot2

Update March 2025
 
 : The preprint described in this paper is now peer-reviewed and published in PLoS ONE.


 
 VP (Pete) Nagraj
 
 is a long time friend, colleague, and collaborator, and is the author of this post. Pete and I have co-authored over a dozen publications, and have taught several graduate courses in data science together.

PLANES provides a set of methods for evaluating the plausibility of epidemiological signals and forecasts. The PLANES methods are available in the rplanes R package and Shiny app.

PLANES: Plausibility Analysis of Epidemiological Signals

This is part 4 of a series on uv. Other posts in this series:


 uv, part 1: running scripts and tools


 uv, part 2: building and publishing packages


 uv, part 3: Python in R with reticulate

I’ve never been a big fan of notebooks, and I’m not the only one. Out of order code execution, hidden state, difficulty diffing in version control, output bloat, etc.

Using uv with Jupyter: demo using polars and seaborn for analysis and visualization.

uv, part 4: uv with Jupyter

Closing my browser tabs: papers, blogs, news stories, YouTube videos, tutorials, etc.

Weekly Tabs: Aug 15 2025

I’m thrilled to share the publication of our new paper published today in

 Nature Reviews Biodiversity

: You can read the paper (free) here: https://rdcu.be/ewG5R.Read the paper (free) This Perspective paper was a global collaboration between Colossal Biosciences, the University of East Anglia, the Globe institute at the University of Copenhagen, the Mauritian Wildlife Foundation, Durrell Wildlife Conservation Trust, the government of

Our new perspective paper in Nature Reviews Biodiversity describes how modern gene editing technology can serve as a crucial "second aid" approach to conservation in genetically depleted populations

Genome engineering in biodiversity conservation and restoration

In a previous post I demonstrated how to set up a local LLM that you can run through either a command line interface (Ollama) or a graphical user interface (Open WebUI and others), and quickly demonstrated how to “chat with your documents” with a local model using LMStudio. In that previous post I simply attached a few documents to a one-off chat.

Demonstration using Mistral and Nomic Embed with Ollama and Open WebUI

Build a local RAG application with Open WebUI to chat with your Zotero library

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.

Pangenome graph construction with nf-core/pangenome, pangenome graphs, single cell multi-omics, RNA foundation models, Nextflow for B-cell receptor sequencing from nontargeted bulk RNA-seq, ...

Weekly Recap (Nov 2024, part 3)

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.

Protein design with RoseTTAFold, wastewater sequencing T2T human genomes, single-cell spatial transcriptomics, taxonomic classification, ...

Weekly Recap (Oct 2024, part 4)

We’re 6 weeks into the new year and I’m

 still

catching up on papers from my late 2024 backlog.

Neuropsychiatric PGS don't predict professional categories, pangenome graph-based GWAS, building and using single cell atlases, sketching sketching in genomic epidemiology, multimodal protein model...

Weekly Recap (Feb 2025, part 1)

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.

The Evo model for sequence modeling and design, AI agents in biomedical research, improving bioinfo software with teamwork, VCF manipulation, GWAS Catalog, designing+engineering synthetic genomes...

Weekly Recap (Dec 2024, part 3)

A Google search for “R vs Python” returns thousands of hits across sites like Reddit, IBM, Datacamp, Coursera, Kaggle, and many others.

Python for R users

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

Nextflow to web apps, variant analysis with DRAGEN, synthetic cis-regulatory elements, Nextflow for kinase ID+characterization, language model for single cell analysis, scalable protein design, ...

Weekly Recap (Dec 2024, part 2)

I joined Twitter1 way back in 2009. For nearly 10 years “scitwitter” was an amazing place for discussion, discovery, and engagement with the scientific community. The #Rstats and #pydata hashtags were great places to learn about something new in programming, #icanhazpdf was great for getting papers you didn’t have access to, and conference live-tweeting was common and useful for those of us with FOMO not able to make it in person.

Bluesky starter packs for genomics, bioinformatics, R, and Nextflow

Bluesky for Science

In the spirit of Learning in Public, I wanted an excuse to explore (1)

 click

for creating command line interfaces, (2)

 Cookiecutter

project templates, and (3) modern tools in the Python packaging ecosystem. If you’re primarily an R developer like me, I recently wrote about resources for getting better at Python for R users.

Demonstration for how to build a Python command line utility with Click using a Cookiecutter project template, and how to publish to PyPI and Docker Hub

Build a Python CLI with Click+Cookiecutter

I recently wrote a piece about leaving academia for biotech. I left academia for industry in 2019. I spent four years at a consulting firm before joining Colossal Biosciences.

 This week I’m returning to the University of Virginia School of Data Science as a tenured associate professor and dean of research.

The transition from academia to industry can be tricky, but it’s also increasingly common.

Thoughts and advice on transitioning from a career in industry biotech to academia. 1.4k words, 6 minute reading time.

Moving from biotech to academia

I have a little hobby project I’m working on and I wanted to use the opportunity to fully make the switch to Positron from RStudio. I used Positron here and there when it first came out, but now that it’s out of beta and has a more complete feature set (like remote SSH sessions!) I have everything I need to switch and not look back.

Positron Assistant provides inline completions with GitHub Copilot and chat using Claude 4 Sonnet. Demonstration: using agent mode to create an R package with Roxygen2 docs and testthat unit tests.

Positron Assistant: GitHub Copilot and Claude-Powered Agentic Coding in R

This week’s recap highlights an interesting new model of deep ancestral structure shared by humans unearthed using a new coalescent-based HMM (cobraa), a genomic language model for predicting enhancers and their allele-specific activity, atom-level enzyme active site scaffolding using RFdiffusion2, and a new perspective article on multimodal foundation models in biology.

Deep ancestral structure shared by humans, a genomic language model for enhancer prediction, enzyme active site scaffolding using RFdiffusion2, multimodal foundation models in biology, ...

Weekly Recap (July 2025, part 2)

This week’s recap highlights PhyloSketch for interactively drawing and manipulating phylogenies, Uncalled4 for nanopore DNA and RNA modification detection, Severus for SV calling from long reads, CREsted for modeling synthetic cell type-specific enhancers, and a review on transformers and genome language models.

PhyloSketch for drawing phylogenies, Uncalled4 for DNA/RNA modification detection, Severus for long read SV calling, CREsted for synthetic enhancer modeling, a review on genome language models, ...

Weekly Recap (June 2025, part 1)

In the spirit of learning in public, I wanted an excuse to dive into Quarto to learn more about publishing formats beyond simple PDF and HTML documents. If you’re not familiar, Quarto (quarto.org) is the successor to RMarkdown, the next-generation scientific publishing system that works natively with Python, R, and OJS. If you already have RMarkdown you probably don’t have to do

 anything

to it to get it to render with Quarto.

Turn a collection of RMarkdown documents into a book in &lt;1 hour using Quarto

Writing a book with Quarto

This week’s recap highlights new methods in genetic epidemiology, mostly centered around genomic data sharing and privacy-preserving methods: a short commentary on genomic data sharing highlighting how new challenges complicate large-scale data sharing practices, a privacy-preserving method for QTL mapping, privacy-preserving methods for federated biobank-scale GWAS analysis, a Nextflow pipeline for polygenic score QC and construction, and new

Methods in genetic epidemiology, privacy-preserving methods for QTL and GWAS analysis, family-based GWAS, lots of Nextflow for PGS construction, bacterial GWAS, and metagenomics analysis

Weekly Recap (May 2025, part 1)

This week’s recap highlights FLAMES for prioritizing genes at trait-associated GWAS hits, integrating protein language models and an automatic biofoundry for enhanced protein evolution, benchmarking DNA sequence models for causal regulatory variant prediction, and the doubletrouble R/Bioconductor package for identifying and classifying gene and genome duplications.

Effector genes at GWAS hits, protein evolution, regulatory variant prediction, gene/genome duplication analysis, genomic foundation models, Nextflow pipelines for annotation and polygenic scores, ...

Weekly Recap (April 2025, part 2)

This week’s recap highlights ESCARGOT, an AI agent for biomedical knowledge graphs and reasoning, CASTER for direct species tree inference from whole-genome alignments, the scGPT-spatial foundation model for spatial transcriptomics, the BioChatter platform for biomedical research applications with LLMs, moscot for mapping cells through time and space, and two reviews: one on epigenetic clocks and another on structural variation in the human

AI agents for biomedical reasoning, species tree inference, a spatial transcriptomics foundation model, biomedical research with LLMs, mapping cells through time and space, epigenetic clocks, SVs, ...

Weekly Recap (March 2025, part 2)

Here we are most of the way through March and I’m just getting around to my first “weekly” recap. It’s been a busy month — I’m writing a few papers of my own which I’ll share here when they’re published, and I took some much needed R&amp;R in Portugal where I traded my stack of research papers for some escapist sci-fi. But I’m back now and making my way through a deep backlog.

Heritable polygenic editing, self-supervised learning in single-cell genomics, predictive modeling with tabular foundation models, ESM3, pangenome graphs in biodiversity genomics, ...

Weekly Recap (March 2025, part 1)

It’s been a few weeks since I wrote a recap about what I’m reading. It’s been difficult watching helplessly as the institutions and financial infrastructure underpinning my profession are being systematically and irreversibly dismantled, with brilliant scientists I know personally having their careers destroyed and lives upturned.

Predicting RNA-seq coverage from DNA sequence with Borzoi, doing it faster with Flashzoi, phylogenetic inference from structure, prioritization in GWAS vs rare variants, LLMs for patient interactions

Weekly Recap (Feb 2025, part 2)

OpenAI introduced the ability to create custom GPTs back in November 2023. I wanted to try to create one of these, and in the spirit of learning in public this post describes how I made it. But first, what does it do?Gene Info Custom GPT

 Gene Info custom GPT

The Gene Info custom GPT takes a list of human gene symbols as input.

Gene Info: a custom GPT that takes a list of gene symbols and provides summary information, gene ontology terms, and provides contextual information like pathway or disease involvement.

Gene Info Custom GPT

Background


 Bluesky, atrrr, local LLMs

I’ve written a few posts lately about Bluesky — first, Bluesky for Science, about Bluesky as a home for Science Twitter expats after the mass eXodus, another on using the atrrr package to expand your Bluesky network. I’ve also spent some time looking at R packages to provide an interface to Ollama.

Summary, translation, and sentiment analysis of Bluesky posts on a topic using atrrr, tidyverse/ellmer, and mlverse/mall with Claude and other open models, and gistr to put the summary on GitHub.

Bluesky conversation analysis with local and frontier LLMs with R/Tidyverse

One of my previous employers was a Google Cloud partner, which gave me full and free access to all of Google Cloud’s certification programs, where I took the Professional Cloud Architect and Professional Data Engineer programs. It shouldn’t surprise anyone that with Google leaning hard into GenAI that they have new certification programs and learning paths, like this Generative AI Leader certification.

Free short courses on GenAI, LLMs, responsible AI, image generation, encoder-decoder architectures, BERT, attention, transformers, ...

Free AI courses from Google

This week’s recap highlights Evo2 for variant effect analysis and genome design, a preprint showing that pretraining doesn’t necessarily increase performance on genomic foundation models, a new R package ggalign for making complex biological data visualizations with ggplot2, and an ancestral reconstruction method for ancient DNA. I also highlight a few reviews in biodiversity genomics.

Evo2, genomic foundationless models, the ggalign R package, ancestral reconstruction for ancient DNA, biodiversity genomics reviews, structural variation in mammalian genomes, pangenomics, ...