HiFi WGS As A (Nearly) Unified Tool For Rare Genetic Disease Diagnosis

A look at Alexander Hoischen AGBT talk

omicsomics.blogspot.com/2024/05/hifi-w…

📣 extremely proud of Lex Dingemans from Human Genetics Nijmegen, Radboudumc Radboudumc and all our collaborators on our latest publication in Nature Medicine. Please read it here 👇

doi.org/10.1038/s41591…

Many thanks ISVARIANTS #isv24 #isv2024 for this nice conference. I had a great time in Porto, meeting old and new friends and collaborators - and enjoyed the great presentations at the event. Many thanks to all organizers!
Hope to see many of you at #eahg2024 European Society of Human Genetics (ESHG)

Now on stage the wonderful Joris Vermeesch from KU Leuven on single-cell whole genome haplotyping #isv2024 #isv24
Impressive: >20 years of innovations in genomics for preimplantation genetic testing!

Excited to even give two presentations and talk about two of my favorite topics 1.) Clinical Applications of Long-Read Sequencing 2.) Optical Genome Mapping - next generation cytogenetics #isv2024

🧬 #isv2024 Last chance to join us! Don't miss your chance Peter Robinson Charité - Universitätsmedizin Berlin Sara Gutiérrez-Enríquez Vall d’Hebron Institute of Oncology (VHIO) Ana-Teresa Maia Universidade Algarve Joris Vermeesch KU Leuven Alexander Hoischen Radboudumc Human Genetics Nijmegen, Radboudumc @jtdendunnen Carla Oliveira i3S-Instituto de Investigação e Inovação em Saúde Universidade Porto & more! isv.variome.org

Thanks Serena Nik-Zainal for the amazing talk and your great engagement with the students!

Wonderful - thanks for your great participation! Much appreciated!

#bertinoro2024 congratulations to our poster price winners!

Bertinoro 2024. Varun winner of the basic science poster prize. A fantastic group of students ⁦Alexander Hoischen⁩

Bertinoro2024. And now Bruna from Brazil, winner of the Han Brunner clinical and translational poster prize presenting!

Glad we changed even this “community is NOT OGM free anymore” #bertinoro2024

We saved the best for last. We are thrilled to have Serena Nik-Zainal giving this years “Romeo-McKusick lecture” #bertinoro2024