Dr Aleena M Stolworthy (@aleenamolbio) 's Twitter Profile
Dr Aleena M Stolworthy

@aleenamolbio

Ensembl training🔬.
EMBL-EBI Cambridge UK 🇬🇧.
PhD in molecular biology.
ESHG Social media Chair.

ID: 1594353828

calendar_today14-07-2013 22:17:32

284 Tweet

369 Followers

513 Following

European Society of Human Genetics (ESHG) (@eshgsociety) 's Twitter Profile Photo

Cannot make it to the first sessions at #eshg2025? Remember you can always join the sessions live online via the ESHG conference platform: cattendee.abstractsonline.com/meeting/21105

James Fasham (@jamesfasham) 's Twitter Profile Photo

Phasing ✅ Parent of Origin ✅ SV resolution ✅ from *short* read WGS with Illumina Constellation technology Haven't heard about this yet? - see P23.008B at #ESHG2025 ExeterGenomes @nihrexeterbrc.bsky.social exeter.ac.uk

Phasing ✅ Parent of Origin ✅ SV resolution ✅ from *short* read WGS with <a href="/illumina/">Illumina</a> Constellation technology

Haven't heard about this yet?
- see P23.008B at #ESHG2025

<a href="/ExeterGenomes/">ExeterGenomes</a>
@nihrexeterbrc.bsky.social
<a href="/exeter/">exeter</a>.ac.uk
Dr Aleena M Stolworthy (@aleenamolbio) 's Twitter Profile Photo

Bill Newman officially kicks off ESHG: we need global collaboration to champion genomics, patient-centered clinical research hand in hand with the public ! #Genomics #GlobalHealth #eshg2025

Bill Newman officially kicks off ESHG: we need global collaboration to champion genomics, patient-centered clinical research hand in hand with the public ! #Genomics #GlobalHealth #eshg2025
Dr Aleena M Stolworthy (@aleenamolbio) 's Twitter Profile Photo

Thomas Naert on Pythia editing (an AI design tool) how it will facilitate genomic integration and editing for experimental and therapeutic purposes. #eshg2025 #bioinformatics #genetics

Thomas Naert on Pythia editing (an AI design tool) how it will facilitate genomic integration and editing for experimental and therapeutic purposes. 
#eshg2025 #bioinformatics #genetics
James Fasham (@jamesfasham) 's Twitter Profile Photo

Sébastien Küry #ESHG2025 Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies

Sébastien Küry #ESHG2025

Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies
eshg_young (@eshg_young) 's Twitter Profile Photo

📢Call for trainees and early career geneticists📢12:15-13:15 CEST on 26th May eshg_young MatchMaking career event takes place at our ESHG-Young Booth #546 Meet PIs, mentors and industry representatives💼👨‍💼👨‍🔬 No registration needed for young geneticists! #ESHG2025 European Society of Human Genetics (ESHG)

Dr Aleena M Stolworthy (@aleenamolbio) 's Twitter Profile Photo

Join James Fasham from #ESHG2025 SMC at Sequencing Square W19 for a lively debate on Social Media’s Role in Science! Dive into how platforms are shaping scientific communication 🎤

Dr Aleena M Stolworthy (@aleenamolbio) 's Twitter Profile Photo

Don’t forget to upload your slides to the system! You’ll get a QR code instantly, and the whole process is super seamless, done in under 5 minutes. Bonus: you get to enjoy the view while you wait. #ESHG2025

Don’t forget to upload your slides to the system!
You’ll get a QR code instantly, and the whole process is super seamless, done in under 5 minutes. Bonus: you get to enjoy the view while you wait. #ESHG2025
Mohamed Wafik (@mo__wafik) 's Twitter Profile Photo

#ESHG2025 Sequencing square James Fasham Dr Aleena M Stolworthy (virtually) running a workshop on the use of Social Media in Science; asking the question: "Has social media broken scientific knowledge sharing?" #Socialmedia #Science #Genomics

#ESHG2025 Sequencing square

<a href="/JamesFasham/">James Fasham</a> <a href="/aleenamolbio/">Dr Aleena M Stolworthy</a> (virtually) running a workshop on the use of Social Media in Science; asking the question:

"Has social media broken scientific knowledge sharing?"

#Socialmedia #Science #Genomics
Raquel Gouveia Silva (@raquelgfsilva) 's Twitter Profile Photo

It was a pleasure to work with you#ending my term#@eshg_young Always for the Young generations A huge past and a brilliant future for this team! ✨ Milan 2025

It was a pleasure to work with you#ending my term#@eshg_young 
Always for the Young generations 
A huge past and a brilliant future for this team! ✨ Milan 2025
James Fasham (@jamesfasham) 's Twitter Profile Photo

Zornitza Stark zornitza.bsky.social #ESGH2025 🤖 TALOS automatically and iteratively re-reviews genomes and exomes (including CNVs/SV on historic data) focus on specificity - only 0.7 candidates /trio Diagnostic yield is 5%, 248/4,744 - higher in older cases 9% 2019 4% 2022

Zornitza Stark 
<a href="/zornitza/">zornitza</a>.bsky.social
#ESGH2025

🤖 TALOS automatically and iteratively re-reviews genomes and exomes (including CNVs/SV on historic data)

focus on specificity - only 0.7 candidates /trio

Diagnostic yield is 5%, 248/4,744
- higher in older cases 9% 2019 4% 2022
Mohamed Wafik (@mo__wafik) 's Twitter Profile Photo

#ESHG2025 day 3 Prof Zornitza Stark presenting interesting data using Talos, an open source automated tool, in large scale genomic data reanalysis: • 86% of known in scope diagnoses • >250 new diagnoses from a cohort of 4,735 undiagnosed cases • ~ 30% from new gene-disease

#ESHG2025 day 3

<a href="/ZornitzaS/">Prof Zornitza Stark</a> presenting interesting data using Talos, an open source automated tool, in large scale genomic data reanalysis: 

• 86% of known in scope diagnoses
• &gt;250 new diagnoses from a cohort of 4,735 undiagnosed cases
• ~ 30% from new gene-disease
eshg_young (@eshg_young) 's Twitter Profile Photo

On behalf of the eshg_young community we would like to thank the outgoing ESHG-Young Committee members Mridul Johari, Sabau Delia and Raquel Gouveia Silva for their contributions, time and energy you’ve invested. We look forward to collaboration in the future! #ESHG2025 🧬🧬🧬