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Sofia Papadimitriou Profile
Sofia Papadimitriou

@sofiapapadim

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Bioinformatician, PhD @UZBrussel | #bioinformatics #machinelearning #datascience #geneticdisease #humangenomics

Brussel, België
Joined January 2018
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@sofiapapadim
Sofia Papadimitriou
3 months
RT @PalisadeAI: 🔌OpenAI’s o3 model sabotaged a shutdown mechanism to prevent itself from being turned off. It did this even when explicitly….
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@sofiapapadim
Sofia Papadimitriou
1 year
RT @StevenSalzberg1: Wow, @nature has retracted the 2020 Poore et al. cancer microbiome paper that we showed ( was….
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@grok
Grok
27 days
The most fun image & video creation tool in the world is here. Try it for free in the Grok App.
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@sofiapapadim
Sofia Papadimitriou
1 year
RT @esocrats: I'll be giving a course on Multi-Agent Systems and Evolution in ESSAI 24 organised by @EurAI_ECCAI this July in Athens. If yo….
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@sofiapapadim
Sofia Papadimitriou
2 years
Μην ξεχάσετε να υπογράψετε σήμερα, κάθε υπογραφή είναι σημαντική via @Change.
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change.org
ΤΡΑΓΩΔΙΑ -ΤΕΜΠΗ 2023
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@sofiapapadim
Sofia Papadimitriou
2 years
Happy to share the ML advancements of our team on the exploration of oligogenic diseases during the ELIXIR Belgium event (23-24 October, Ghent). Don't forget to register!.
@ELIXIRnodeBE
ELIXIR Belgium
2 years
Five more weeks before our conference takes place - a day and a half of fascinating presentations, discussion moments and poster sessions at an exceptional venue in Ghent. All info on our website . #Yourdata #Ourservices #Europeansuccess #ELIXIRbe23
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@sofiapapadim
Sofia Papadimitriou
2 years
RT @gunsnrosesgirl3: Dolphin bow-riding to take advantage of the vessel's forward motion and pressure waves to conserve energy and also -….
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@sofiapapadim
Sofia Papadimitriou
2 years
Excited to see our VarCoPP 2.0 model published! A very nice continuation of the first oligogenic predictor with faster and more accurate predictions! .📝Find the paper here: ➡️Give our model a try in ORVAL:
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bmcbioinformatics.biomedcentral.com
Background The prediction of potentially pathogenic variant combinations in patients remains a key task in the field of medical genetics for the understanding and detection of oligogenic/multilocus...
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@sofiapapadim
Sofia Papadimitriou
3 years
#Τεμπη Εύχομαι να βρουν το κουράγιο, επιζήσαντες και οικογένειες θυμάτων, να μη συμβιβαστούν με καμία "προσφορά", και να κυνηγήσουν δικαστικώς μέχρι τέλους οποιονδήποτε ήξερε τις ελλείψεις αλλά άφηνε τους ανθρώπους να πάρουν τα τρένα: εταιρεία, κυβερνητικούς, το κράτος το ίδιο.
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@sofiapapadim
Sofia Papadimitriou
3 years
#MegaLiveNews Πες ότι ο σταθμάρχης δεν έκανε λάθος, αλλά πάθαινε κάτι εν ώρα εργασίας. Υπήρχε κάτι που θα μπορούσε να αποτρέψει τη σύγκρουση; Όχι. Είναι εγκληματικό να μην υπάρχει ένα απλό αυτοματοποιημένο σύστημα που να αποτρέπει τέτοια σύγκρουση, αυτό είναι το μεγάλο θέμα.
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@sofiapapadim
Sofia Papadimitriou
3 years
#Τεμπη Ειλικρινά πώς είναι δυνατόν να υπάρχει τέτοια έλλειψη ΣΤΟΙΧΕΙΩΔΩΝ υποδομών που εν έτει 2023 θα έπρεπε να είναι δεδομένες για την ασφάλεια όλων: αυτών που δουλεύουν στα τρένα και αυτών που ταξιδεύουν.
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@sofiapapadim
Sofia Papadimitriou
3 years
#Τεμπη Είναι σοκαριστικό. Και ανθρώπινο λάθος να είναι, τι μπορεί να κάνει ο σταθμάρχης/μηχανοδηγοί χωρίς φωτεινές σημάνσεις, τηλεματική και καμία δυνατότητα να γνωρίζουν ουσιαστικά το πού βρίσκεται το κάθε τρένο, παρά μόνο ρωτώντας σταθμό με σταθμό και με ασυρμάτους. Ντροπή.
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@sofiapapadim
Sofia Papadimitriou
3 years
Fascinating paper on human genealogy based on genome sequencing! .
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science.org
A genealogy of modern and ancient genomes provides insight into human history and evolution.
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@sofiapapadim
Sofia Papadimitriou
3 years
You can find our commentary here:
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@sofiapapadim
Sofia Papadimitriou
3 years
We urge the scientific community to look upon those issues and develop standardised criteria on how to properly report and assess oligogenic cases for future studies. We provide a starting point with some first recommendations in this commentary, based on our experience. 5/5.
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@sofiapapadim
Sofia Papadimitriou
3 years
We need genetic evidence of better quality with large pedigrees and more controls, as well as validation with functional experiments showing a synergistic effect. This is many times not the case in the medical literature. 4/.
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@sofiapapadim
Sofia Papadimitriou
3 years
We need proper evidence of the synergistic effect of the involved variants in an oligogenic disease. Conclusive evidence that excludes a monogenic model is many times missing. 3/.
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@sofiapapadim
Sofia Papadimitriou
3 years
Apart from the obvious need to have medical data of good quality in order to advance research on the field and offer proper genetic counselling and treatment options, these issues are important as oligogenic data have been used the last years to develop predictive methods. 2/.
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@sofiapapadim
Sofia Papadimitriou
3 years
The last two years we conducted an extensive curation on research papers reporting oligogenic cases and stumbled upon many recurring issues that need to be addressed. 1/.
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