Oncology pipelines don’t stay where they were first built. They move across teams, infra, and timelines, and can start to get brittle.
So we built twistcgp with @twistbioscience.com as an nf-core-based workflow for analyzing data from the Twist Oncology DNA CGP Panel.
github.com/fulcrumgenom...
At #AGBTAg26, @nilshomer.com will present our work with @broadinstitute.org , @umasschan.bsky.social, and Darwin's Ark on building a comprehensive imputation reference panel for domestic cats.
See the flash talk today at 4:30pm during the Plenary, or catch poster #128 during the poster sessions.
With CacheDNA we benchmarked ensilication for room‑temp DNA storage vs −80°C.
Results:
-100% concordance on clinical FFPE lung panel down to ~2% VAF
-65% more artifactual C>T mutations at -80C than ensilication in WGS
What this means for oncology, TMB, and global genomics:
shorturl.at/ZqUck
We built fgbio years ago to support UMI-aware sequencing.
As datasets grew, the single-threaded design started to show its limits.
fgumi is the next iteration: same expected outputs, rewritten for performance and scale.
github.com/fulcrumgenom...
Blog post details below👇
Ever receive a BAM aligned to “GRCh38” and realize that could mean several different references?
We just released ref-solver, a tool that identifies the reference genome behind BAM/CRAM/FASTA files by comparing sequence dictionaries to known builds.
🔗 whatsmygenome.fulcrumgenomics.com
Read more 👇
HGVS parsing sounds straightforward until you run it at scale across real clinical variants.
We just released ferro-hgvs, a Rust-based parser/normalizer that processes millions of variants per second & handles many tricky edge cases other tools struggle with.
🔗 hgvs.acgt.bio
Details in blog post👇
Bioinformatics tools usually emit the final result and discard everything that led to it.
That missing signal is exactly what ML models need to learn from.
Fulcrum co-founder @nilshomer.com makes the case that next generation tools should be AI-ready.
🔗 blog.fulcrumgenomics.com/p/your-bioin...
PMWC 2026 Precision Medicine World Conference March 4-6, 2026 Let's talk precision medicine bioinformatics Attending: Clint Valentine VP of Operations
Our #bioinformatics leader & VP of Ops, @moonlight.bio, will be at #PMWC26 March 4–6 in Santa Clara. PMWC continues to push the field toward turning complex biological data into real decisions.
Clint will be on-site connecting with teams advancing #genomics and #PrecisionMedicine.
Evaluation data to be presented at
@aacrjournals.bsky.social in April.
🔗 github.com/fulcrumgenom...
Open-source (nf-core–based) workflow built with @twistbioscience.com for the Twist Oncology DNA CGP Panel is now public on GitHub.
Portable across local/HPC/cloud.
SNVs, indels, CNVs, TMB, MSI, VEP+CIViC, QC.
"AGBT meet your new bioinformatics team" with hand-drawn portraits of Nils Homer and Tim Fennell
@tfenne.bsky.social and @nilshomer.com are on the ground at #AGBT2026 this week.
Big data. Tight timelines. Real decisions.
#Bioinformatics is where complexity becomes something teams can actually use.
If you’re here, let’s connect.
We will check back in after the meeting to see if our hypothesis is validated
One week to #AGBT2026.
#Genomics data keeps growing. Pipelines keep multiplying.
Turning results into something usable for research or the clinic?
Still the hard part.
From a #bioinformatics lens, what do you want to hear more about? Vote below
Today is International Day of Women and Girls in Science.
Grateful for the women who design studies, wrangle messy data & ask the hard questions that move research forward. Your expertise makes science stronger every day.
#WomenInScience
In translational/clinical work we see bioinformatics projects fail not due to science, but because early assumptions box the data in.
We plan with downstream reality in mind: biology, existing data, constraints that matter. That’s how teams move fast without rework.
Let’s chat & scope your project
A new *Nature Genetics* paper co-authored by Alison Meynert maps the signalling effects of every possible CTNNB1 exon 3 missense mutation. Variants in the same hotspot can differ substantially in effect.
More in our blog post ↓
blog.fulcrumgenomics.com/p/why-functi...
In this final edition of our Meet the Team series, we introduce a teammate whose perspective reflects a simple premise: molecules don’t lie. After these brief interviews we hope you feel like you know each of us a little better — or want to.
Meet Jess Smith: blog.fulcrumgenomics.com/p/meet-jess-...
Text on a blue background reading "They helped us move faster than we could on our own." Keith Brown, Founder, Jumpcode Genomics
Most teams don’t struggle with ideas, just the momentum to get there quickly. We can help.
“Start with a concept, describe the desired outcome and they can build the tools to make you successful.”
— Keith Brown, Founder, Jumpcode Genomics
UMI consensus isn’t hard. Making it reproducible is.
Our answer to reproducibility is fastquorum, an nf-core pipeline that turns fragile, one-off UMI workflows into something boring and reliable.
No hype. Just infrastructure that works.
👉 www.linkedin.com/pulse/fastqu...
New case study out: Fulcrum Genomics + Belay Diagnostics.
We helped take an ECS pipeline from prototype → CAP/CLIA-ready clinical deployment, with auditability, testing to prevent regressions & cloud architecture fixes that reduced cost + avoided resource exhaustion.
👉 tinyurl.com/mtkwup9b
Schematic of a genomics pipeline with MutSeqR
Most ECS pipelines focus on clean error-corrected reads.
What happens after variant calling is often ad hoc.
MutSeqR picks up there for mutation frequency modeling, spectrum analysis, & benchmark dose estimation across ECS platforms.
More detail here:
🔗 blog.fulcrumgenomics.com/p/mutseqr-op...
Today we feature a teammate balancing rigor and delivery in complex projects. He shares views on data-driven development, disciplined iteration, and connecting lab and computational teams. We hope you’ll feel like you’ve met us — or want to.
Meet Matt Stone: blog.fulcrumgenomics.com/p/meet-matt-...
Which shift are you most excited (or skeptical) about?
Planning a stack upgrade? We’d love to collaborate.
Genomics is set for a big 2026: AI agents, GA4GH standards, Rust‑native workflows, long reads/ECS/SVs, and protein sequencing + AI design.
You made 2025 a great year @moonlight.bio, Juliann Chmielecki, @geoffjentry.bsky.social, Yossi Farjoun, Alison Meynert, Zach Norgaard, @msto.bsky.social, Ted Brookings, Jason Fan, Erin McAuley, Jess Smith, Tim Dunn, @charlottetolonen.bsky.social, @nilshomer.com, @tfenne.bsky.social
DNA helix holiday wreath with the Fulcrum Genomics logo
Thank you to our clients - for the challenging problems, the good questions, and the partnerships.
Thank you to our team - for showing up with curiosity, rigor, and heart every single day.
MutSeqR offers variant filtering, mutation frequency analysis, dose-response modeling, and spectrum analysis, all in a transparent, reproducible framework.
📄 Paper: doi.org/10.1093/bioa...
💻 Code: github.com/EHSRB-BSRSE-Bioinformatics/MutSeqR
#OpenScience #Genomics
