Brent Pedersen @brent-p.bsky.social · 01/09/2026a new release of somalier with a user fix for long reads: github.com/brentp/somal... somalier continues to get better and if you're not using it or another means to detect sample swaps, you're operating blind reach out to me for consulting if you want to do some in *depth* QC on large cohorts 020
Brent Pedersen @brent-p.bsky.social · 14/08/2026"load-bearing" is coming up a lot lately. Anyone seen a sort of LLM etymology of how these phrases come to be so commonly-used? Doesn't seem obvious how this happens with RL as I understand it. And to obviate the obvious response: "you're right to call that out!" 120
Reposted by Brent PedersenJames Ferguson @psy-fer.bsky.social · 29/07/2026I was recently invited to provide a case study along with other researchers for this blog post+pre-print. My main points are: AI agents are useful, but steering through expertise, verification, responsibility, and support are more important than ever openai.com/index/scient...openai.comScientific computing in the age of agentic AIA new field report shows how scientists use AI coding agents to modernize scientific computing, accelerating software development and discovery in genomics and beyond. 162
Reposted by Brent PedersenSeth Stadick @ducktapeprogrammer.bsky.social · 28/07/2026I have some large changes queued up for rust-lapper to address the worst-case in these benchmarks: biodatageeks.org/polars-bio/b... BUT, it's now a fundamentally different data structure. The API is the same for using it. Do I release as a v2 of rust-lapper, or release as a brand new crate?biodatageeks.orgInterval operations benchmark — update September 2025 - polars-bio 101
Reposted by Brent PedersenSeth Stadick @ducktapeprogrammer.bsky.social · 28/07/2026The speedups roughly 1.5x faster on the general cases and ~76x faster on the worst case in that benchmark post. Lapper as an idea originates from @brent-p.bsky.social, and a large part of its uniqueness is how simple it is. 111
Brent Pedersen @brent-p.bsky.social · 15/05/2026thehackernews.com/2026/05/mini... It's hard to find all these in one place: ~/.npmrc min-release-age=7 ~/.config/uv/uv.toml exclude-newer = "7 days" ~/.bunfig.toml [install] minimumReleaseAge = 604800 ~/.config/pnpm/config.yaml minimumReleaseAge: 10080 020
Brent Pedersen @brent-p.bsky.social · 06/05/2026LLMs open up the possibility of providing more functionality and customization for command-line tools and anything that takes a config without drowning users by exposing a scripting interface. That's basically it, but a bit more here: brentp.github.io/latest/blog/...brentp.github.ioAI Scripting - Brent PedersenScripting interfaces help users. 141
Brent Pedersen @brent-p.bsky.social · 30/04/2026thanks to @ankane.bsky.social echtvar is now available in brew: brew install echtvar dat is superleuk! 010
Brent Pedersen @brent-p.bsky.social · 30/04/2026With help from contributors, echtvar is still improving: github.com/brentp/echtvargithub.comGitHub - brentp/echtvar: using all the bits for echt rapid variant annotation and filteringusing all the bits for echt rapid variant annotation and filtering - brentp/echtvar 021
Brent Pedersen @brent-p.bsky.social · 23/04/2026github.com/brentp/blamm... Does QC and EDA for long reads. It was written entirely by LLM.github.comGitHub - brentp/blammo-qc: quick qc on long-read alignment files. Show read-length and depth distributionsquick qc on long-read alignment files. Show read-length and depth distributions - brentp/blammo-qc 020
Brent Pedersen @brent-p.bsky.social · 17/04/2026New version of somalier is up: github.com/brentp/somal... Has a CHARR contamination estimator, a CONPAIR pair-wise inter-sample contaminatoin estimator, an AB/depth plotter and other improvements to make it of greater utility in cancer samples. 020
Brent Pedersen @brent-p.bsky.social · 15/04/2026as part of my work with isabl genomics, I've been updating somalier with more info for cancer samples (contamination and concordance). somalier extracts small "sketches" of ~20K sites from a BAM/CRAM/VCF and then does rapid all-vs-all kinship checks. (1/n) 111
Brent Pedersen @brent-p.bsky.social · 12/03/2026the codex desktop app was only available as a Mac DMG. A while ago, I downloaded it and told codex cli to make it work on linux. It did. Now I use that nearly exclusively. gist.github.com/brentp/b6bd8... 031
Brent Pedersen @brent-p.bsky.social · 12/03/2026Again, I think making a custom GPT (or similar) as I did for bedder will be the default for most software shortly. If it can't answer common questions, improve the docs and refresh and the maintenance burden of answering user questions goes down. 050
Reposted by Brent PedersenAaron Quinlan (he/him) @aaronquinlan.bsky.social · 12/03/2026Brent Pedersen, Mitchell Vollger and I have "posted" our preprint of the manuscript describing bedder, a complement to the functionality of bedtools. The "preprint server" we have chosen is google docs because it was rejected by biorxiv. docs.google.com/document/d/1...docs.google.combedder-manuscript.v10Bioinformatics, 2026, 0–0 doi: 10.1093/bioinformatics/xxxxx Advance Access Publication Date: DD Month YYYY Genome Analysis Genome Analysis bedder: flexible genome interval intersection with user-defi... 74118
Brent Pedersen @brent-p.bsky.social · 05/03/2026I would guess that soon, every tool will have one of these. It is more interactive than just documentation and better than waiting for a grumpy maintainer to answer the same question in a github issue or personal email. 000
Brent Pedersen @brent-p.bsky.social · 05/03/2026Feeding my markdown docs to this, then using it in anger shows where the docs need to be bolstered and provides a nice reference for users: help.openai.com/en/articles/... here's one for bedder: chatgpt.com/g/g-69a6027f...chatgpt.comChatGPT - bedderhelp with bedder commands and python snippets 010
Brent Pedersen @brent-p.bsky.social · 22/02/2026I had a similar, less principled way of doing this, but this does seem to work quite well after trying a couple of large changes with it: boristane.com/blog/how-i-u... (I use codex, but same idea) 081
Brent Pedersen @brent-p.bsky.social · 23/01/2026scratch that. better to use gemini-cli, turn on preview features and then get gemini 3.0 pro and flash for free for a decent amount each day. 000
Brent Pedersen @brent-p.bsky.social · 14/01/2026crush coding agent with a free plan from cerebras using glm4.7 model is an easy way to start with coding cli tools. inference-docs.cerebras.ai/support/rate... github.com/charmbracele... crush is static binary that detects your CEREBRAS_API_KEY. GLM 4.7 isn't as good as Opus, but it is very solid. 110
Brent Pedersen @brent-p.bsky.social · 12/01/2026another reminder about htsvcf which allows either 1. rust library to support javascript expressions (filtering/modification) on variants from VCF/BCF 2. javascript (node/bun) library for reading/writing/modifying variants from vcf/bcf. both very performant. github.com/brentp/htsvcfgithub.comGitHub - brentp/htsvcf: lib for scripting vcf access from rust and node module for vcf access from js/tslib for scripting vcf access from rust and node module for vcf access from js/ts - brentp/htsvcf 080
Brent Pedersen @brent-p.bsky.social · 30/12/2025a post about how, with LLMs, I wrote a new set of libraries. Wrapping htslib is my hello-world but doing it in rust to allow javascript expressions handled by V8 was more substantial project. The tools and LLMs are now getting quite good: brentp.github.io/latest/blog/... let me know what you thinkbrentp.github.ioAI Coding - Brent PedersenWriting real software with AI coding tools 0112
Brent Pedersen @brent-p.bsky.social · 28/12/2025my LLM-coded version of the single-page year calendar that's been going around. This one can be scripted with javascript to highlight cells, change the borders and texts. It also allows saving and sharing via url: brentp.github.io/single-page-... with code here: github.com/brentp/singl...brentp.github.ioCalendar 010
Brent Pedersen @brent-p.bsky.social · 28/12/2025so Opus 4.5 is excellent for coding. I've been using these LLMs for coding for a while and it felt like slow improvement with each new model and sometimes more work to guide the model. Opus 4.5 just works. It solves hard problems and has good taste. Anyone else notice this? 250
Brent Pedersen @brent-p.bsky.social · 22/12/2025I'll write more about this later, but as an experiment in LLM coding (GPT-5.2 and Opus 4.5), I wrote a JS wrapper for rust-htslib to read/write modify VCFs: www.npmjs.com/package/htsvcf works on linux (x64/aarch64) and OSX. brentp.github.io/htsvcf/lates... 120
Reposted by Brent PedersenAaron Quinlan (he/him) @aaronquinlan.bsky.social · 02/12/2025Get bedder v0.1.8 and r𝗲𝗮𝗱 𝘁𝗵𝗲 𝗱𝗼𝗰𝘂𝗺𝗲𝗻𝘁𝗮𝘁𝗶𝗼𝗻 here: github.com/quinlan-lab/... We are looking for researchers to kick the tires, integrate bedder into their pipelines, and provide feedback on the Python functions, performance, and overall user experience! Please share and give us your feedback.github.comRelease Release v0.1.8 · quinlan-lab/bedder-rsChanges in v0.1.8 Downloads bedder-static-linux-x86_64: Static binary for Linux x86_64 (no dependencies required) bedder-static-macos-x86_64-python3.13: macOS x86_64 binary built with Python 3.13 ... 1116
Reposted by Brent PedersenAaron Quinlan (he/him) @aaronquinlan.bsky.social · 02/12/2025We are thrilled to announce the first official release (v0.1.8) of #𝗯𝗲𝗱𝗱𝗲𝗿, the successor to one of our flagship tool, #𝗯𝗲𝗱𝘁𝗼𝗼𝗹𝘀! Based on ideas we conceived of long ago (!), this was achieved thanks to the dedication of Brent Pedersen. 1/nquinlanlab.orgIntro to Bedder – The Quinlan Lab 5298151
Reposted by Brent PedersenMatt Holt @holtjma.bsky.social · 18/11/2025Aardvark? github.com/PacificBiosc...github.comGitHub - PacificBiosciences/aardvark: A tool for sniffing out the differences in vari-AntsA tool for sniffing out the differences in vari-Ants - PacificBiosciences/aardvark 121
Brent Pedersen @brent-p.bsky.social · 18/11/2025I vaguely recall seeing #bioinformatics tool that could compare variants (or set of variants) using haplotypes rather than simply normalize and check for equality. That murky description is about as specific as I can get. Any pointers? IIRC, it's not just a truth-set evaluation tool. Has API 220
Brent Pedersen @brent-p.bsky.social · 06/11/2025how do we feel about putting JSON in the INFO field of a VCF? 521
Reposted by Brent PedersenRob Patro @robp.bsky.social · 06/03/2025This is very cool work and I'm happy to see it published. Vcfexpress by @brent-p.bsky.social and @aaronquinlan.bsky.social allows building (essentially) arbitrary VCF filters expressed in lua code with parsing & eval powered by rust! academic.oup.com/bioinformati...academic.oup.comVcfexpress: flexible, rapid user-expressions to filter and format VCFsAbstractMotivation. Variant Call Format (VCF) files are the standard output format for various software tools that identify genetic variation from DNA sequ 1268
Brent Pedersen @brent-p.bsky.social · 04/02/2025vcfexpress applies simple user expressions variants in a VCF. it can replace one-off python scripts to manipulate VCFs, likely with better performance. we'd like to collect use-cases here: github.com/brentp/vcfex... if you have a use-case and want some pointers, open an issuegithub.comvcfexpress/examples at main · brentp/vcfexpressexpressions on VCFs. Contribute to brentp/vcfexpress development by creating an account on GitHub. 051
Brent Pedersen @brent-p.bsky.social · 28/01/2025vcfexpress is a command-line tool built in rust that lets users apply lua expressions to modify or filter a vcf from the command-line github.com/brentp/vcfex... new release with better docs github.com/brentp/vcfex... and examples github.com/brentp/vcfex... 030
Brent Pedersen @brent-p.bsky.social · 27/01/2025I am looking for a mentor for the rust programming language. My latest issue is with trait bounds (github.com/brentp/simpl...) but I have a few things I generally hit. I can compensate with $$ or interesting problems. :) Please share with relevant people and feel free to DM.github.com 142
Brent Pedersen @brent-p.bsky.social · 25/11/2024with Jason K from @aaronquinlan.bsky.social lab, I have been dusting off fraguracy, which evaluates sequencing error rates using the portion of bases from paired end reads that overlap. New release adds, among other niceties, tracking for distance to homopolymers github.com/brentp/fragu... 161