
Sofia Papadimitriou
@sofiapapadim
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Bioinformatician, PhD @UZBrussel | #bioinformatics #machinelearning #datascience #geneticdisease #humangenomics
Brussel, België
Joined January 2018
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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RT @StevenSalzberg1: Wow, @nature has retracted the 2020 Poore et al. cancer microbiome paper that we showed ( was….
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The most fun image & video creation tool in the world is here. Try it for free in the Grok App.
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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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Μην ξεχάσετε να υπογράψετε σήμερα, κάθε υπογραφή είναι σημαντική via @Change.
change.org
ΤΡΑΓΩΔΙΑ -ΤΕΜΠΗ 2023
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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!.
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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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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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:
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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#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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#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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#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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#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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Happy to have a chat at @HGGAdvances on our recently published commentary on how to properly report oligogenic cases:
ashg.org
Each month, the editors of Human Genetics and Genomics Advances interview an early-career researcher who has published work in the journal. This month we check in with Sofia Papadimitriou (@sofiapa...
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Fascinating paper on human genealogy based on genome sequencing! .
science.org
A genealogy of modern and ancient genomes provides insight into human history and evolution.
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RT @icity_brussels: 🧡🎧Just like Shazam that records and recognizes the music you hear, the @HeartKinetics technology (ULB spin-off) is trai….
lecho.be
Grâce à une application mobile et une bonne dose d’intelligence artificielle, HeartKinetics veut détecter plus rapidement les insuffisances cardiaques et désengorger les services de cardiologie.
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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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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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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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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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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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