Undiagnosed Hackathon has begun!

We were very fortunate to have the opportunity to introduce PubCaseFinder to clinicians and researchers participating in the Undiagnosed Hackathon. Thanks to the organizers! docs.google.com/presentation/d…

The 1st #undiagnosedhackathon was a great success with finale of Coat of Arms designed by the participants from Japan! Looking forward to seeing all in Georgia in October 22-23 for the 12th #UDNI meeting, registration link will be opened soon Wilhelm Foundation Udninternational #raredisease

Japanese team attended the 1st #UndiagnosedDisease Hackathon that was a great success! Looking forward to seeing a next #UndiagnosedHackathon . Wilhelm Foundation Udninternational #RareDisease #CoatofArmsProject drive.google.com/file/d/17_TaX6…

#Undiagnosed Hackathon 📸. A great example of meaningful collaboration centred around patients. Grateful to get to know this incredible community working so hard to solve the most difficult cases. -> 2 days of hackathon -> 10 families analysed -> 4 cases solved Wilhelm Foundation 💙

📣 So extremely proud of our latest #research by Lex Dingemans, published online today Nature Genetics, reporting on the use of #AI to help diagnose individuals with #raredisease. Read it here 👇 rdcu.be/diKmE Human Genetics Nijmegen, Radboudumc Radboudumc Radboudumc wetenschap

Diagnosis? #FOAMed

Diagnosis? #medEd (Medinaz Academy)

Diagnosis? #Pediatrics

#raredisease

The #gnomAD team is proud to announce the release of gnomAD v4! The v4 dataset includes 730,947 exomes & 76,215 genomes, which is ~5x larger than the v2 & v3 releases combined, & includes nearly 120K indivs of non-European genetic ancestry broad.io/gnomad_v4 #ASHG23 (1/11)

A 56-year-old man presented w/ a severe headache that occurred suddenly. The patient also complains of not seeing very well. Exam w/ left-eye ptosis & a dilated pupil that is inferiorly & laterally deviated. What is the likely diagnosis? #MedX #FOAMed

Today we announce the submission to #ClinVar of >32,000 variants evaluated for the return of hereditary disease risk in the AllofUsResearch cohort. Its wonderful to return value to those who contribute their data to biomedical research! More details here: allofus.nih.gov/news-events/an…

Just arrived in Berlin for #ESHG2024! Excited to explore the city and connect with everyone here. Let's meet up if you're around. I'm also eager to introduce and share the new features of PubCaseFinder!

Cheers to solving rare genetic diseases #undiagnosedhackathon2024

JSBiニュースレター最新46号は DBCLS BioHackathon 2024報告が掲載！ jsbi.org/publication/ne… Report 3は GestaltMatcher + PubCaseFinder チームだよ！