Agnes Caruso
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agnescaruso.bsky.social
Agnes Caruso
@agnescaruso.bsky.social
Geneticist, product manager & photographer #humangenetics #moleculardx #womenshealth #socialmedia. Opinions stated are my own. https://www.linkedin.com/in/agnieszkacaruso/
Have you ever had cafe romano? I finally made it is really refreshing.
August 11, 2025 at 3:04 AM
Structural variants and how can they be evaluated in GWAS studies. #eshg2025
May 27, 2025 at 9:04 AM
Solvathons are a large team efforts to solve rare disease cases. #eshg2025
May 27, 2025 at 7:54 AM
Matchmaker Exchange - 10 years! And some stats. #eshg2025
May 27, 2025 at 7:13 AM
This part (in purple) was relatively easy, but it is the other less recognizable syndromes is the part needing matchmaking to figure out the underlying causes of diseases.

#eshg2025
May 27, 2025 at 7:10 AM
If you thinking influencers are just for consumer products, think again. They are important in science just as much. #eshg2025
May 26, 2025 at 1:01 PM
Preparation is important for social media campaign and the landscape is changing so talking to social media specialists may be very helpful #eshg2025
May 26, 2025 at 12:57 PM
@ritabmatos.bsky.social how do young scientists share the scientific knowledge & learn what is going on. #eshg2025
May 26, 2025 at 12:42 PM
Combating misinformation on vaccination by #TeamHalo #eshg2025
May 26, 2025 at 12:33 PM
May 26, 2025 at 12:25 PM
Rules of participation #eshg2025
May 26, 2025 at 12:18 PM
Join us for social media workshop #eshg2025
May 26, 2025 at 12:16 PM
Achieving balance in newborn screening to do more good than harm is very important but not a simple task. #eshg2025
May 26, 2025 at 7:26 AM
Phasing helps to resolve rare variants. It is not perfect but helps.
There is still need for clear family history.
#eshg2025
May 26, 2025 at 7:07 AM
Should any pathogenic variant be reported? #eshg2025 penetrance and age of onset are important for reporting.
May 26, 2025 at 7:01 AM
Common list of genes for newborn screening? #eshg2025 are we going to agree?
May 26, 2025 at 6:40 AM
Prgrams we will hear from today #eshg2025
May 26, 2025 at 6:36 AM
May 26, 2025 at 6:34 AM
The 3rd day of #eshg2025.
May 26, 2025 at 6:07 AM
Important resources for nomenclature #eshg2025
May 25, 2025 at 2:13 PM
A lot of changes but fewer chapters now 😁. #eshg2025
May 25, 2025 at 2:11 PM
Confused about nomenclature? #eshg2025
May 25, 2025 at 2:08 PM
Vincente Yepez: No result from DNA analysis but RNAseq found translocation #eshg2025
May 25, 2025 at 1:04 PM
Same guidelines used, two different interpretations by trained individuals 🤔. Bottom line there was an affected family member but that information was not passed on. It is critical to ask patients to get family history & include it when genetic testing is done. #eshg2025
May 25, 2025 at 12:55 PM
What types of variants are most commonly missed? #eshg2025
May 25, 2025 at 12:43 PM