PacificBiosciences/HiFi-SVTopo: Complex structural variant visualization for HiFi sequencing data github.com/PacificBiosc...
...being presented at #ashg24 this year. 🧬🖥️

Continued 2: GDS: Mendelian randomization design: Z → X → Y ← C
Z: genetic variant
C: confounder
X: exposure of interest
Y: outcome #ASHG24 🧪🧬🖥️

GS: Mendelian randomization introduced because of the dramatic failure of other attempts to find causality from observational methods. #ASHG24

Now: @mendelrandom.bsky.social (GS): Mendelian randomization: what it was, what it is, and what it should become #ASHG24 🧪🧬🖥️

Our March issue is online!
Check out the latest human #genetics research & revisit #ASHG24 with a selection of addresses from the meeting
www.cell.com/ajhg/current

Speaker and ASHG 2024 Annual Meeting attendees during a session.

🎬 #ASHG24 at your fingertips! Access on-demand content featuring sessions, workshops, and other events you'll want unrestricted access to. Plus, #ASHGMembers score discounted pricing! Secure your pass today and start watching👉 learning.ashg.org/am-2024-digi... #ASHG #HumanGenetics

ASHG Annual Meeting attendees gathered together during a session.

Make the most of your holiday downtime by re-visiting #ASHG24! 🎉 From Career Development Panels to Plenary Sessions, our digital pass brings the year’s genetics content straight to you. Start watching today: learning.ashg.org/annual-meeting #ASHG

At #ASHG24, @jacksonlab.bsky.social's Christina Vallianatos, Ph.D., was interviewed about her role on @geneticssociety.bsky.social's Public Engagement & Awareness Committee (PEAC).

📽️ Learn about PEAC's goal to engage the public on human #genetics & #genomics research: youtu.be/JiN3tPlZmB0

I've been thinking about the key themes from the #ashg24 meeting in Denver a few weeks ago... Genetic architecture: the relationship between genes and traits was overarching
bsky.app/profile/megr...
reminds me how returning to the old literature is so important:
bsky.app/profile/popp...

Members of the Teaching the Genome Generation™ team stand to the sides of their poster at ASHG 2024.

Members of the Education team stand together at The Jackson Laboratory's booth at ASHG 2024.

The Jackson Laboratory staff stand together at the JAX booth at ASHG 2024.

😍 We loved networking at #ASHG24! Thanks to everyone who stopped by @jacksonlab.bsky.social's booth.

Learn more about our offerings ⤵️
💠 Courses & Workshops: www.jax.org/courses
💠 Postbac, Ph.D., & Postdoc: www.jax.org/trainee
💠 High school teacher PD: www.jax.org/ttgg

Our presentation delivered by our colleague @MariaCerezo and several presentations mentioning GWAS Catalog.

NEWS! Check our wrap-up about #ashg24 shorturl.at/WcTiz
Something is missing? Let us know!

🙌 Thanks, ASHG, for giving us the floor to share updates with #genetics community, delivered by our colleague @mariacerezo.bsky.social

#OpenAccess #gwas #gwasdatahero
Stronger together @ebi.embl.org @NIH

Back posting a bit, but had a great time with the lab at #ASHG24. Posters on heart transplant rejection, bronchopulmonary dysplasia, and GBM tumor microenvironment.

It was great to present our work on the genetics of resistance to disease & how to return results of low disease risk to people at #ASHG24

Why a focus on low risk?
- can't only do high risk, high risk, high risk
- clear benefits to patients
- maybe easier to explain avg risk

🧵 with slides

As a ML scientist working in statistical genetics, #ASHG24 was super interesting for me given how many interesting talks/posters I saw at the intersection of ML & genetics. There were especially several very interesting talks/posters on using ML for phenotyping in GWAS. (1/)

@enhanc3dgenomics | Linktree Linktree. Make your link do more.

If you’d like to hear how we at Enhanced Genomics are using genome-wide 3D multi-omics to get max value from the human genome in drug discovery and precision medicine, download our #ashg24 poster here linktr.ee/enhanc3dgeno...
#Genetics #Biotechnology #Multiomics #PersonalisedMedicine #DrugDiscovery

https://www.sciencenews.org/article/common-drug-treat-rare-genetic-disease

Nice little write up about my talk at #ASHG24. really good work by the lab

t.co/VgE7lMpuEf

a group of minions are celebrating with the words hooray ALT: a group of minions are celebrating with the words hooray

Maybe everyone already knew about this, but the AllofUs results browser is up so you can look up your favorite genetic associations (I assume this is the browser Konrad Karczewski presented at #ASHG24 that is now ready?).
allbyall.researchallofus.org

If you missed this poster session at #ASHG24, you can now view the poster online! Happy to have a chat if you're interested in long-read PGx with #PacBio!

www.pacb.com/wp-content/u...

darth vader says that really hits me where i live on the screen ALT: darth vader says that really hits me where i live on the screen

"I spent too much time on QC to not have a slide about it" 😂
Definitely the best thing I've heard this entire conference.
#ASHG24

Picture of six people smiling in the snow in the city of Denver

A picture of Yuyang Chen giving a presentation. In the background a large screen has a slide saying "Variants in RNU4-2 cause a neurodevelopmental disorder (ReNU syndrome)". In the foreground, many people sit listening to the talk.

A poster is being presented while others listen.

Back home and reflecting on a fantastic week at #ASHG24.
It was wonderful to reconnect with friends, make new connections, and be surrounded by amazing science! 🧬

This was my first time attending ASHG with many of my amazing team (see below). They did an incredible job representing the group 🥰 1/2

Tired Bored To Death GIF - Find & Share on GIPHY Discover & share this Tired Bored To Death GIF with everyone you know. GIPHY is how you search, share, discover, and create GIFs.

Hello world. Hi, less Musky echo chamber of scientists I've missed. Feedback welcome on cool work trainees presented (more soon!) at the exhausting week of #ashg24 et al.
www.biorxiv.org/content/10.1...
www.medrxiv.org/content/10.1...
www.medrxiv.org/content/10.1...
www.biorxiv.org/content/10.1...

Flatirons in Boulder

View of Boulder from Flatirons

Thanks for a great #ASHG24. Sorry you all missed the nice weather. Come visit again!

a conference session where the author of this post is speaking. the crowd is in the foreground and the author is at a podium in the background

was a little too down to fully engage with #ASHG24, but happy i got to present on some resources i/others are building to a new crowd

To close out #ASHG24, we convened several Indigenous movement makers for genomics education for Tribal Colleges and American Indian/Alaska Native serving institutions! Part of the ASHG-NHGRI partnership.

Entire closing session of #ashg24 was excellent. Congratulations to the organisers for arranging such an inspiring set of distinguished speakers. Put a charge into everyone to head back home and get to work.

So long #ashg24! Before I go, I wanted to highlight platform session “More than one way to break a gene: variant impacts on RNA” that included remarkable studies on RNA stability, splicing, transcriptional compensation, and mechanisms of NMD.

Thank you for all your #ASHG24 posts!

Goodbye #ASHG24! It's been a great conference! See everyone at #ASHG25 in Boston!

That's a wrap for this year's #ASHG24 #ASHG2024 meeting! Thank you @GeneticsSociety for another wonderful meeting full of exciting science and the opportunity to catch up with friends and colleagues, and start new collaborations! See you next year in Boston at #ASHG25!!!

Insightful and interesting panel discussion and perspectives on the present and future of human genetics & genomics in the last session of #ASHG24 #ASHG2024