My Portuguese is rusty - but one thing is clear the “EU/Europe loves Brasíl(ia)” — and vice versa - as we’ve seen by the great Brazilian delegation at #eshg25 @eshg.bsky.social
0
0
0
0
Hashtag
#ESHG25
Advertisement · 728 × 90
Big congratulations to our very own Christina Kajba for winning a presentation award at #ESHG25.
You can read all about her work here:
www.cell.com/cell-genomic...
17
1
0
0
PGS of the lab value mean predicts disease better than individual trajectory components
Summary of GCTB
Combined imputations to inform genomic predictions
Imputing LD from GWAS
Saying arrivederci to #eshg25 . So much impressive work. These were some of my highlights (there were many others and definitely work that I missed) that may directly inspire our projects.
4
0
2
0
#ESHG25 wrap 💡
We were proud to be able to share a glimpse of #EASIGEN-DS work through the team contributions, our poster and materials. Take a look at some highlights below 👇
Small steps that mark progress🚀
#EASIGEN #HumanGenomics #ResearchInfrastructure #HorizonEU
1
0
0
0
Finally, thanks to everyone who stopped by my poster and all the friends and colleagues that contributed to making #ESHG25 a blast!
Can’t wait to do it all again next year in 🇸🇪🇪🇺
1
0
0
0
3
1
1
0
Come along today and see me and Harry begin to tackle the exponentially increasing population scale WGS data! #ESHG2025 #ESHG25
8
3
0
0
It was great to see Mohammad Umair, author of Rare Genetic Disorders at the #ESHG25 European Human Genetics Conference in Milan at the weekend.
The title Rare Genetics Disorders was one of our Key Titles at the conference, published by @springermedicine.bsky.social
0
0
0
0
Last day of #ESHG25 #ESHG2025, make sure to catch two fantastic back-to-back talks from @hls.exeter.ac.uk @drghawkes.bsky.social describing whole genome association analysis and meta-analysis across >500,000 people (Tuesday 11:15 & 11:30, C32)
12
3
0
1
Unsolicited plug for Adam Butterworth @aidanbutty.bsky.social who's just joined bsky. Follow him before it's too late! #eshg2025 #eshg25
1
1
1
0
Enjoying the last presentations of the day at #eshg25 @eshg.bsky.social,where Fischer and Burgess gave excellent overviews of the foundations, recommendations and pitfalls of Mendelian randomisation (MR).
2
1
0
0
OK, I'm starting to get #ESHG25 FOMO now! Those of you who are there should check out a poster from our group @hls.exeter.ac.uk investigating penetrance of variants in TSC1 & TSC2, with implications for newborn genome screening.(P15.033.D - pop by for a chat Monday 4-5pm)
12
2
0
0
Particularly interesting talk from @rjhfmstr.bsky.social @ #ESHG25. Impressive work coming out of @unil.bsky.social 🧬🚀
5
1
0
0
At #ESHG25, make sure to hear the fantastic @chundru.bsky.social speak about characterizing genome-wide de novo mutations in control populations versus rare disease cases (Monday 11:15, C29), part of the work we're doing in paradigmgenomics.org
12
5
0
0
Excellent talk by my colleague @elfridedebaere.bsky.social on cis regulatory elements in eye diseases at #eshg25. If you did not attend her session, I highly recommend to watch it on the virtual platform. Enhanceropathies research at Ghent University is on 🔥
8
2
0
1
Excellent flash talk by #FunGen PhD student @lisahamerlinck.bsky.social ! If you missed it, you still have the chance to check out her poster P10.003 tomorrow between 16:00-17:00. #eshg25
3
0
0
0
📣 PSA: if you want to follow along what's going on during this year's @eshg.bsky.social conference in one feed, follow this feed that collects all posts using #eshg2025 or #eshg25!
bsky.app/profile/did:...
5
2
4
1
Doesn't get much better than learning about @deciphergenomics.bsky.social from experts like @jamesfasham.bsky.social at #ESHG25! 🤓🍦
4
1
0
1
if one more person is rude to Award Candidates when asking them questions I'm going to start throwing tomatoes 🍅😠 #wheninitaly #eshg2025 #eshg25
0
0
0
0
If you are interested in a postdoc position on neural organoids in the lovely city of Ghent, Belgium, and happen to be at #eshg25, feel free to come and have a chat with me. Or, if you know other interested people, feel free to share with them.
1
1
0
0
An ancient Psion Series 3mx organiser with a text editor and pedigree details according to the PedigreeMD notation format. https://github.com/shanemuk/pedigreemd - it organises around the principles of First Degree Relatives - once you define these, you can quickly spin out a pedigree without faffing around with the computer mouse. Moreover you can jot down a pedigree in any simple text editor, then upload/paste into your "industrial" pedigree software or the EHR. I'm also working on a parser that will read these text files and convert the data into standard input formats (XML, LINKAGE etc) for software like Progeny, @phenotips.bsky.social, etc.
A wee offering for my pals at #ESHG25 #ESHG2025 #ESHGMilan2025 - missing you guys! Here's some stuff I've been doing on a distinctly retro (but rather usable and forgiving) notation format that allows you to rapidly take down pedigree details in a simple text editor: github.com/shanemuk/ped...
2
0
0
1
At #ESHG25, check out today's workshop with @jamesfasham.bsky.social to learn about the amazing @deciphergenomics.bsky.social (Sunday 14:15, W10)
11
5
0
1
Sadly I can't be at #ESHG2025 in Milan, but loving the #ESHG #ESHG25 content so far. #Genomics is moving at an amazing pace and delivering so much benefit. Glad you're all having fun (envious) 😁
7
0
1
0
Back at #ESHG25 after (way too) many years! Talking tomorrow on Sun at 9:30 about some of our cell painting work in neurons - come say hi. See also these presentations from my team: #eshg25
6
2
0
0
Excited to be in Milan for #eshg2025! If you’re interested in leading analysis of large, diverse cohorts with WGS and cellular genomic data in Australia, I’d be keen to chat - we’re looking to fill a variety of senior comp bio roles: populationgenomics.org.au/careers/ #eshg25
14
7
0
0
First up in "Improving the diagnostic yield of rare diseases" (gold plenary room) is amazing student Yuyang Chen - 5th talk at 11:30.
He will talk about annotating variants in novel small ORFs, including the story of how he came across that variant in RNU4-2... 🧬
#eshg2025 #eshg25
7
1
0
0
On my way to #eshg25!
If you are interested in the work we do at the FunGen lab, check out the flash talk on Sunday and poster on Monday by @lisahamerlinck.bsky.social or come and have a coffee with team members @michael-b-vaughan.bsky.social, @eedhaene.bsky.social or me. Hope to see you there!
5
3
1
0
