Tim Fennell

@tfenne.bsky.social

Bioinformatician, Leader, Founder @fulcrumgenomics.bsky.social https://www.fulcrumgenomics.com

well okay so the english won against the norwegians but in only a few days theyll have to face the french. anyway thats quite enough about September 25th 1066, lets look at some football news

🚀 ferro-hgvs 0.7.0 is out: our biggest release yet. Major upgrades to HGVS normalization, parsing & projection: spec-compliant 3′ shifting, mosaic/compound alleles, multi-axis projection (g/c/n/p/r), Ensembl support, plus ~1.7× faster parsing. github.com/fulcrumgenom...

Release v0.7.0 · fulcrumgenomics/ferro-hgvs

Added (reference) validate manifest schema/version at load, fail loud on an incompatible reference (#1003) (mosaic) parse predicted-wrapper and whole-entity-LHS =/ forms (#992) (protein) parse ins...

github.com

More fun with fable yesterday. A coworker thought they'd cracked the code by asking opus to pose questions to a fable sub-agent in Claude Code. Dear reader, they had not.

In other news I released a tool called methylsieve ~3 weeks ago, thinking it would just be a better "filter unconverted reads" tool that'd slot in between alignment and sorting. Then I got frustrated that most tooling does m-bias filtering wrong ... now I have a version 0.2 coming soon... 🧬 🖥️ 🧵

New riker release this morning - version 0.4.0 is out! Major updates are: - New "rna" tool that ports picard CollectRnaSeqMetrics, fgbio EstimateRnaInsertSize, and much more - New global --threads option to multithread input BAM/CRAM decoding - Big performance improvements in "wgs" and "hybcap"

How good is MiniBWA, the successor to BWA? To test it, I ran MiniBWA on sequencing from 76 different species, comparing mapping speed, rate and accuracy with BWA MEM. In short, it's really good. If you map short reads, it's well worth your time. andrewcarroll.github.io/2026/06/30/t...

The Best of Both Worlds - Assessing MiniBWA

Recently, Heng Li released MiniBWA (GitHub) alongside a paper by Heng Li and Nils Homer describing the method (paper). MiniBWA builds on the approaches in Minimap2 (also by Heng Li), but falls back on...

andrewcarroll.github.io

I was really hoping that in the time it's been away, @anthropic.com might have made the biology related guardrails in fable better. But no. Me: Are you able to do anything biology related yet, or are your guardrails still ludicrously coarse? Claude: Switched to Opus 4.8

@psy-fer.bsky.social I've been trying out rustar after struggling to get STAR to run on mac. It's great - thank you!! Have you spent much time optimizing speed/performance? I'd be happy to try and help if contributions are welcome and you think there's opportunity for improvement.

Top of the list of things I wouldn't have done without Claude/AI this week: write a harness that runs tens of thousands of iterations of fastp to find 4 deadlock bugs (really 1, repeated in four places) that cause fastp to infrequently hang at the end of processing. And of course fix, and PR it.

The Scantox + LatchBio + Fulcrum webinar on the new Scantox DuplexSeq™ Mutagenesis App is now available on demand. @moonlight.bio covers Fulcrum’s approach to rebuilding and validating the bioinformatics pipeline so the infrastructure could improve without changing the science. Link below👇

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