#eshg2025
Thank you! You gave such an illuminating talk! #eshg2025
May 26, 2025 at 8:22 PM
Inspiring presentations by @caina89.bsky.social & @jamespirruccello.com @ #ESHG2025 showing how many more biologically-relevant findings we can get with AI-derived phenotype in 🧠neuro & 🫀 cardiac health
May 25, 2025 at 1:41 PM
#GWAS bigger, faster, stronger
👏 amazing session @
#ESHG25 #ESHG2025
May 24, 2025 at 9:51 AM
Time for #ESHG2025 ! 😀 Nice to see you again Milan! Looking fwd to meeting many friends & colleagues - drop a msg if you r here
May 23, 2025 at 9:05 PM
Looking forward to attending #eshg2025 🧬 I will present my poster on the benefits of #T2T reference genome for SNP calling and identification of clinically relevant variants. Let’s meet in Milan!
May 16, 2025 at 11:10 AM
Missed Tony Brooks' talk at #ESHG2025? Catch the replay to see how UCL Genomics is accelerating research with Watchmaker’s RNA & DNA workflows—featuring real-world benchmarking, low-input performance (cfDNA, Cut&Run), and RNA-seq automation. 🎥 Link in comments. #NGS #Genomics
July 15, 2025 at 2:43 PM
🚀 We’re headed to #ESHG2025 in Milan!

Join us May 24-26 to explore NGS innovations, catch our Sunday breakfast workshop (8:30 AM, Amber 3), & see our poster (P16.064.C, Mon 1-2 PM).

📷 Visit Booth 288 to connect and learn more!
May 22, 2025 at 3:02 PM
If you're at #ESHG2025, don't miss the chance to visit the poster and have a chat with my friend @sanchezgaya.bsky.social!!! 👏🏼😎
Ready and excited to start with #ESHG2025. If you want to hear about how developmental genes can contribute to the insulation of their own TADs, and the consequences for SV interpretation, find me on P22.020.A poster on Sunday 13:00-14:00. Special thanks to the best host @mattetrovato.bsky.social ❤️
May 25, 2025 at 12:47 PM
Hye In Kim. " Human knockouts" in the Genes and Health cohort.

#ESHG2025
May 27, 2025 at 10:21 AM
Aisha Hanaya Alsuwadi on the UAE Genome Program. Love this slide. From population genetics to personalised medicine.

#ESHG2025
May 27, 2025 at 10:15 AM
Georgios Kalantzis. Many more knockouts not previously described, lilely due to hugh autozygosity.

#ESHG2025
May 27, 2025 at 9:58 AM
Georgios Kalantzis. Second time this morning that highlights the need to expand beyond additive effects in GWAS.

@ESHG2025
May 27, 2025 at 9:55 AM
The two sessions on penetrance and expressivity were among my top favourite seesions this year.

#ESHG2025
May 27, 2025 at 8:32 AM
James Ware shows optimism about the clinical use and potential for therapeutic target discovery of genetic modifiers.

#ESHG2025
May 27, 2025 at 8:31 AM
James Ware.Polygenic scores predict penetrance with clinically useful effect sizes.

#ESHG2025
May 27, 2025 at 8:22 AM
James Ware.Genetic background as a modifier of penetrance: Polygenic contribution to monogenic Hypertrophic cardiomyopathy.

#ESHG2025
May 27, 2025 at 8:20 AM
James Ware introduced the term "recreational genomics" to refer to certain consumer genetic tests. And I love it.

#ESHG2025
May 27, 2025 at 8:13 AM
James Ware. The majority of cardiomyopathy cases do not have an identified monogenic cause.

#ESHG2025
May 27, 2025 at 8:08 AM
Elena Pegoraro. "Cis" effects and "trans" modifiers in DMD.

#ESHG2025
May 27, 2025 at 7:39 AM
Henrike O. Heyne.
Risk factor? Benign variant?
Benign does not equal neutral

#ESHG2025
May 27, 2025 at 7:20 AM
#ESHG2025

Taking a break from the science.
May 26, 2025 at 7:37 PM
Hilary Martin on recessive diagnoses in DD. Exome-wide burden test of biallelic genotypes. Yield of new recessive genes is low with this study design.

#ESHG2025
May 26, 2025 at 3:31 PM