Four days, one whiteboard, forty open browser tabs, and against all odds, something that actually makes an impact in the field :). Hackathon @bcmhgsc.bsky.social Aug 25-28 Register:https://fritzsedlazeck.github.io/blog/2026/hackathon-2026/ @dnanexus.bsky.social @dcgenomics.bsky.social

Ported the aSTRonaut tool for visualizing tandem repeat sequence composition to Rust using the amazing kuva library from @psy-fer.bsky.social. Blog post at wdecoster.github.io/gigabaseorgi..., documentation at github.com/wdecoster/aS.... Feedback appreciated!

kuva v0.3.0 release! - New raster backend: faster than the old one, dropped dep. - New QuiverPlot type - Pre-compiled release binaries (thanks @wdecoster.bsky.social ) - .parquet input for all CLI subcommands Also lots of fixes and other features crates.io/crates/kuva github.com/Psy-Fer/kuva

inquiSTR: a toolkit for accurate and efficient population-scale tandem repeat genotyping and analysis https://www.biorxiv.org/content/10.64898/2026.06.09.731080v1

🧬 Repeat expansions cause 50+ monogenic disorders and many workflows miss them. 🔬 See how we developed a PCR-free hybrid capture with Trinity™ to retain representation of repetitive loci, enabling accurate genotyping at these expansions on short-read platforms. Poster here: https://bit.ly/4oFuPZo

Every summer I repost this article on how to spot drowning. Please read it and pass on. In the last few years I’ve had SIX messages from people who saved a kid’s life after clicking on the link from my feed. slate.com/technology/2...

Drowning Doesn’t Look Like Drowning

Drowning is not the violent, splashing call for help that most people expect.

slate.com

kuva v0.2.0 Now over 60 plots! New plot types: Gantt, Network, Waffle, Horizon, PopulationPyramid, Joint, Clustermap, ROC, PR, Lollipop, Survival, Raincloud, Slope, Venn, Parallel, Mosaic, Streamgraph, Radar, Treemap, Sunburst, Bump, Funnel, Rose, Calendar, Legend, Text github.com/Psy-Fer/kuva

The year is 2026. It is now easier to vibe-rewrite a Python tool in Rust than to figure out how to get the dependencies installed.

May the Fourth be with YOU, from the Obama Presidential Center. Opening June 19.

On this day in 2019, I witnessed one of the coolest things ever. A lenticular cloud lit-up by a setting sun over the Perito Morena Glacier in Argentina.

I got a little carried away making interactive plots using native SVG features. Then @jpelbers.bsky.social asked if it could run DOOM. It was probably a joke...but I took it as more of a challenge. Anyway. kuva doom -o doom.svg Fully playable and fully contained DOOM inside an SVG

The registration deadline for the Flanders Nanopore Day with @nanoporetech.com is quickly approaching, and the program suggests it will be an amazing event! All information is available at nanoporeflanders.be

I defended my PhD 10 years ago today. That was the least remarkable thing that happened that day. Sharing something I wrote about it last year. Since then "the horrors persist but so do we." And with dignity.

Thrilled to see our work from the past years finally published! We found a novel repeat expansion in the GOLGA8A gene in 60% of the aFTLD-U patients, a rare subtype of frontotemporal dementia. Huge thanks to all collaborators and patients for making this possible. www.nature.com/articles/s41...

A repeat expansion in GOLGA8A is a major risk factor for atypical frontotemporal lobar degeneration with ubiquitin-positive inclusions - Nature Genetics

Genome-wide analysis coupled with long-read sequencing identifies a repeat expansion in GOLGA8A associated with high risk for atypical frontotemporal lobar degeneration with ubiquitin-positive inclusi...

nature.com

Wonder which tandem repeat genotyper to use on your Oxford Nanopore genomes? We benchmarked 7 tools on >100 ONT genomes. We assessed usability, assembly concordance, Mendelian consistency, and sensitivity to pathogenic expansions. www.biorxiv.org/content/10.6... 🖥️ 🧬 @cubiomedinfo.bsky.social

We need to talk about naked mole rats theoatmeal.com/comics/naked...

"The men implicated in the Epstein files reinforces that I spend half my life explaining to men that their simplified, optimistic view of other men doesn’t line up with the experience of women and girls trying to dodge sexual harassment, assault and abuse attempts." - Leslie Morgan Steiner

Building a new plotting library in pure Rust. Making themes and colourblind mode available on every plot type from day 1. What other accessibility options can I add?

It seems like @psy-fer.bsky.social is on fire - rewriting the STAR aligner in Rust 🔥

James Ferguson@psy-fer.bsky.social · 6mo ago

Okay, hand writing it worked a treat. Now we are getting somewhere, and claude stopped going in circles. Time to close the rest of the accuracy gaps! Then i'll work on ensuring all the various modes and file outputs are correct. THEN i'll do STARsolo for single cell

Doctors say that vaccines protect children from dangerous diseases. A nepo baby who barbecues dogs and snorts cocaine off toilet seats says that vaccines make children vulnerable to 5G radiation. For busy parents, it can be hard to know who to trust.

Save the date! The Long‑Read Sequencing Uppsala Meeting (#LRUA26) is happening Nov 2–4, with a great lineup of invited and selected speakers Stay tuned — registration and abstract submission will open soon🧬🖥️ lrua.se

Long-Read Sequencing Uppsala, November 2–4, 2026

#LRUA26: Empower your research with long-read sequencing technologies and connect with experts, peers, and industry leaders in Uppsala this November.

lrua.se

I am fetching reads from cram files in Rust, using rust-htslib and a rayon thread pool. It surprises me that memory use is flat up to 5 threads, but then takes off linearly. Does anyone have a clue what is going on? @robp.bsky.social @johanneskoester.bsky.social Code: github.com/wdecoster/in...

Whether it's Donald Trump getting half a billion dollars from United Arab Emirates or Joe Biden getting free ice cream from a shop in Delaware, influence peddling has been a problem for both men.

We are excited to have @minomatt.bsky.social as a keynote speaker at the Flanders Nanopore Day, alongside a wide range of @nanoporetech.com topics, spanning from microbes to plants to humans. All information - including free registration and free PromethION sequencing - at nanoporeflanders.be

Yesterday it was cows using tools, today its penguins using satellite imagery.

Oh wow: Cryo-EM structure of #TAF15 filaments from postmortem #FTLD brains by the group of Ben Ryskeldi-Falcon at the @mrclmb.bsky.social. What an amazing tour-de-force!! 🤯 www.biorxiv.org/content/10.6...

Join us at the Flanders Nanopore Day conference on April 17th in Antwerp, organized together with @nanoporetech.com! Details are available at nanoporeflanders.be, including registration (free), abstract submission, and project prizes with free PromethION sequencing for two selected projects.