Researchers @sebatlab.bsky.social utilized long-read whole #genome sequencing and identified new #genetic variants associated with Autism. This enhanced the discovery of variants, leading to the potential for accurate testing and new therapies. #AutismSpectrumDisorder today.ucsd.edu/story/long-r...

Long-Read Genome Sequencing Uncovers New Autism Gene Variants

By utilizing long-read sequencing, an emerging technique that reads large sections of the genome at once, scientists at UC San Diego have revealed new genetic variants associated with autism spectrum ...

today.ucsd.edu

Happy new year from Sofia!

Now we need a Fu-index

We are hiring an Assistant Professor of Biochemistry and Biophysics at Weill Cornell Medicine. Come join our collaborative research environment with state-of-the-art facilities in NYC! Application review starts Oct 22. biochem.weill.cornell.edu/join-our-fac...

Please repost: we are recruiting a postdoc for a project in my lab on genes and environment in autism

Jonathan Sebat@sebatlab.bsky.social · 10mo ago

We are proud to be one of the 13 projects funded by the NIH Autism Data Science Initiative. Our project: "Elucidating the Interplay of Genes and Environment in Autism Using Genomic and Exposure Data from Large Populations" 🧵https://www.nytimes.com/2025/09/26/health/autism-research-trump-kennedy.html

Many clinicians and scientists agree that spectrum has become too broad. Question for me really is how to split, and what are the objectives? www.nytimes.com/2025/10/01/h...

Should the Autism Spectrum Be Split Apart?

nytimes.com

Says a lot about the state of popular science reporting that some techbro doofus can pretend he's going to be immortal and that will grab more headlines than "Hey we have a gene therapy that slows the advance of Huntington's by 75%," or "We gengineered a pothos into a living air purifier."

We are proud to be one of the 13 projects funded by the NIH Autism Data Science Initiative. Our project: "Elucidating the Interplay of Genes and Environment in Autism Using Genomic and Exposure Data from Large Populations" 🧵https://www.nytimes.com/2025/09/26/health/autism-research-trump-kennedy.html

Despite False Claims, Trump Funnels Millions Into Credible Autism Research

nytimes.com

Today's ACIP meeting had a presentation on the genetics of myocarditis following COVID vaccine based on Whole exome sequencing of 50 cases. See time stamp 2:26 www.youtube.com/live/_9ChY9S...

Advisory Committee on Immunization Practices (ACIP) - September 19, 2025 – Day 2 of 2

YouTube video by Centers for Disease Control and Prevention (CDC)

youtube.com

Pfff, big deal. My social media accounts are powered by edibles

T. Greg Doucette@gregdoucette.bsky.social · 11mo ago

So you know how there's a running gag about trying to run old school Doom or Wolfenstein on things never intended to run video games? This guy has managed to code a web server that runs from a disposable vape 🤯 bogdanthegeek.github.io/blog/project...

This is it. I cannot explain it, but this is it. This is how -and why- we should be doing science

Elric@elric-mtl.bsky.social · 11mo ago

Next level rice cooker.

Bad ass mom of the year 🤘. This was NOT an easy coffee ride. This was the Saturday Cadence Cyclery ride in SD.

Tahoe Zen

Great turnout! Decoding Genetics of Autism Speakers: Prof Jonathan Sebat - UCSD Prof Lilia Lakoucheva - UCSD Dr. Alan Ma - Children’s Hosp Westmead, Prof. Katrina Williams - @MonashUni Hosted by BMC/Child Neurodevelopment team @adamguastella.bsky.social

I doubt that there is a single family in America that hasn’t benefitted directly from the NIH.

Leaf blowers on lizards is pretty innovative if you ask me

Not the most accurate analogy. In this example there is a real difference between the 4th percentile and the 15th percentile

Paul Thompson@ptenigma.bsky.social · last yr.

Grant writing when the payline is 4th percentile

The former NIH director on the catastrophe unfolding for American research. youtu.be/lW9c6t4potU

A Scientific Brain Drain Has Followed Trump’s Gutting Of The NIH - Dr. Francis Collins

YouTube video by The Late Show with Stephen Colbert

youtu.be

I'm pretty sure that there would not be any context in my chatGPT conversations in which the chatbot would inclined to say "Hail Satan". I'm really missing out.

Structural variants are significant contributor to autism. But many SVs & TRs are hard to detect with short reads. Long read sequencing with @pacbio.bsky.social and @nanoporetech.com captures and maps out alot of what short reads miss. So what can LR-WGS tell us about autism? 🧵

medRxivpreprint@medrxivpreprint.bsky.social · last yr.

Long Read Genome Sequencing Elucidates Diverse Functional Consequences of Structural and Repeat Variation in Autism https://www.medrxiv.org/content/10.1101/2025.07.20.25331880v1

Is there a limit to how many times someone can listen to “war pigs“ in one day? Asking for a friend.

As we have learned, genes have dose-dependent effects on psychiatric traits. DOSAGE, it turns out, is a key element that helps unravel mechanisms of gene → pathway → cell type → brain region → diagnosis. Here we developed a framework to characterize cellular processes that mediate genetic effects.

medRxivpreprint@medrxivpreprint.bsky.social · last yr.

Psychiatric disorders converge on common pathways but diverge in cellular context, spatial distribution, and directionality of genetic effects https://www.medrxiv.org/content/10.1101/2025.07.11.25331381v1