Oliver Hofmann

@fiamh.bsky.social

Cancer genomics in Melbourne, Australia, at day. Board games - https://instagram.com/fiamh_bgg - and dog training - https://instagram.com/totoro.the.lappie - at other times. He/him.

I pushed a package to bioconda 2 weeks ago and it's still waiting for review. Anyone here a maintainer that could help get it unstuck? github.com/bioconda/bio... (We have a paper in review that mentions an option for bioconda install - would like to make that aspirational sentence reality!)

Add vatools by chrisamiller · Pull Request #67110 · bioconda/bioconda-recipes

Adds a new recipe for vatools (https://github.com/griffithlab/vatools), a package designed to ease manipulation of genomic data stored in VCF format

github.com

i'm not a hardcore anti-AI guy, but i cannot think of a single benefit of genAI that could possibly outweigh the harm it is doing to our social fabric, shared reality, and most basic abilities to parse information and learn.

Katie Mack@astrokatie.com · 3mo ago

Just FYI there’s an account on here called @redditspaceviewes.bsky.social (with over 200k followers) that is posting a bunch of AI slop (including a “Saturn polar hexagon” with 8 sides) and claiming it’s NASA imagery. If you see anything posted by them, it’s likely fake.

I'm constantly trying (/failing) to get this point across. If you're a trained expert in a field, then it may be worthwhile to question the scientific consensus of your peers. If you're not, the scientific consensus is absolutely the best you can do and it's arbitrary foolishness to disregard it.

I think it's best for everyone to understand that the unified class project of billionaires right now is to do to white collar workers what globalization and neoliberalism did to blue collar workers.

I've been in SF for four days and on each day I've had multiple conversations where people (self included) express deep feelings, fear, wonder and worry about their skills being replaced or (this is less named explicitly but an assumed driver I think) no longer valued by others. Big threats to feel

was banging my head against a bug (VEP classifying my in-exon variants as 'downstream') that Claude Sonnet 4.5 fixed in about 5 minutes. I can understand the scepticism on LLMs being jammed into every corner of life, but there's merit in these tools

he VEP command looks correct, but the issue is that VEP is annotating based on ALL transcripts/features in the region, and "downstream_gene_variant" is being picked as the consequence. Since you didn't specify --pick or --pick_allele, VEP returns consequences for multiple transcripts, and your code is just taking the first one.

Let me check how you're extracting the consequence from the VEP output:

Found it! You're extracting only the second field from the CSQ column with map_chr(2). This is getting the consequence from the first transcript annotation, which might be a pseudogene or non-canonical transcript.

Let me check what a VEP CSQ field actually contains:

Perfect! I can see the issue now. The VEP CSQ field contains multiple transcript annotations separated by commas. The first annotation is for TSC2 (a different gene!) and shows "downstream_gene_variant". But if you look at the second annotation (after the first comma), you'll see it's for PKD1 ENST00000262304 and shows "3_prime_UTR_variant" for exon 46 (which is correct - exon 46 contains the 3' UTR).

Your code is only extracting the consequence from the first transcript annotation (TSC2), not the PKD1 transcript!

The fix is to parse all transcript annotations and filter for the PKD1 canonical transcript (ENST00000262304). Let me create the fix:

PKD1_mutation_rate.qmd+24-1
Now let's test the fix by re-running the code to see if we get proper consequences for exons 40-46:

Perfect! The fix worked! Now you're seeing proper consequences for exons 40-46:

Missense variants (the most common)

Getting older is like being out on the ocean in the Ship of Theseus but then at some point the guys just decided against replacing the decayed parts.

The comments on this are all about how sweet it is and I feel insane. Using AI to make fake memories of your grandma with dementia and telling her they happened and then filming her reaction

Bild

I recently discovered Conventional Comments (conventionalcomments.org) for providing a pseudo-standard set of labels for feedback and just tried it for an article review and it was really helpful to specify issues vs. thoughts vs. suggestions, etc. Hopefully it's helpful for the authors too!

We strongly suggest using the following labels:

praise:	Praises highlight something positive. Try to leave at least one of these comments per review. Do not leave false praise (which can actually be damaging). Do look for something to sincerely praise.
nitpick:	Nitpicks are trivial preference-based requests. These should be non-blocking by nature.
suggestion:	Suggestions propose improvements to the current subject. It’s important to be explicit and clear on what is being suggested and why it is an improvement. Consider using patches and the blocking or non-blocking decorations to further communicate your intent.
issue:	Issues highlight specific problems with the subject under review. These problems can be user-facing or behind the scenes. It is strongly recommended to pair this comment with a suggestion. If you are not sure if a problem exists or not, consider leaving a question.
todo:	TODO’s are small, trivial, but necessary changes. Distinguishing todo comments from issues: or suggestions: helps direct the reader’s attention to comments requiring more involvement.
question:	Questions are appropriate if you have a potential concern but are not quite sure if it’s relevant or not. Asking the author for clarification or investigation can lead to a quick resolution.
thought:	Thoughts represent an idea that popped up from reviewing. These comments are non-blocking by nature, but they are extremely valuable and can lead to more focused initiatives and mentoring opportunities.
chore:	Chores are simple tasks that must be done before the subject can be “officially” accepted. Usually, these comments reference some common process. Try to leave a link to the process description so that the reader knows how to resolve the chore.
note:	Notes are always non-blocking and simply highlight something the reader should take note of.

Join the Clinical Genomics Laboratory Community (CGLC) meeting on 24 November. This session will explore how artificial intelligence and large language models (LLMs) are transforming variant interpretation. Register for the meeting: us02web.zoom.us/meeting/regi...

Welcome! You are invited to join a meeting: Clinical Genomics Laboratory Meeting. After registering, you will receive a confirmation email about joining the meeting.

The topic for this meeting will be AI and LLMs in Variant Classification

us02web.zoom.us

Reminder: a large (2.5M+) sibling control study found "no evidence of increased risk of autism, ADHD, or intellectual disability associated with acetaminophen use". Precisely the kind of data that requires serious consideration before declaring mission accomplished. jamanetwork.com/journals/jam...

Acetaminophen Use During Pregnancy and Children’s Risk of Autism, ADHD, and Intellectual Disability

This nationwide cohort study with sibling control analysis examines the association of acetaminophen use during pregnancy with children’s risk of autism, ADHD, and intellectual disability.

jamanetwork.com

Heads up: ignore samtools dot org, similarly minimap2 dot com and likely others. It's owned by a known phishing site and while the binaries they offer look valid currently (but note they may be serving us different binaries to others), that could change. Ie: it's not us (Samtools team)! Be warned

Breaking Google up was one of the last best hopes for preventing the free press from getting squeezed into oblivion and harvested into AI slop, and for saving the open web. The ruling that effectively lets Google continue operating as a monopoly isn't just disappointing, it's a disaster.

One of the last, best hopes for saving the open web and a free press is dead

The Google ruling is a disaster. Let the AI slop flow and the writers, journalists and creators get squeezed.

bloodinthemachine.com

At scale, the way that we store (and process) data matters! Many may think that the way we keep data, the file formats we adopt, and the way that we compress data are unimportant details, but they are, in fact, critical considerations to allow science to move forward at scale!

naturepoker@binomicalabs.org · 11mo ago

I can't believe the biggest bottleneck in my lab right now is scrounging to afford more storage for processing data, not sequencing costs, technique or analysis difficulty.

I still can't get past the idea that people in America are now supposed to accept that this is a valid form of law enforcement and just assume it's fine when random dudes in groups with face-coverings, no ID, no warrant, & no uniform grab people off the street and force them into unmarked vehicles

Jeff Lazarus@jlazarus.bsky.social · last yr.

Not an original point but worth saying again - there is not a single element in this picture that identifies any of these folks as law enforcement agents. No badges, no uniforms, no vests. Out of context it just looks like a bunch of random guys are kidnapping a mayoral candidate.