ahoischen.bsky.social - Profile | ThreadSky | a Reddit-style client for Bluesky

#agbtgm #AGBT2025 cool new tech to encapsulate single cells will be presented tonight. …scalable to all cell sizes…

submitted 1 day ago • 0 comments

The Editors of Genome Research are here at AGBT! #genomics #AGBT25 #AGBTGM

submitted 4 days ago • 2 comments

Kicking off the meeting with opening remarks by Rick Wilson! #AGBT25 | #AGBTGM

submitted 4 days ago • 0 comments

Wow! #AGBTGM #AGBT25 #AGBT2025 just kicked off by Bill Clinton! „…the human genome project was the best $3 billion tax money ever spent…“

submitted 4 days ago • 0 comments

Early flight for #agbtGM #agbt25 #agbt2025 with @christiangilissen.bsky.social. Looking forward to the 25th anniversary back on Marco Island. Let me know if you want to discuss long-read sequencing, optical genome mapping, and any type of omics for rare disease research and diagnostic!

submitted 5 days ago • 3 comments

Check out our new preprint describing CiFi - a method that couples 3C and PacBio HiFi sequencing with low input requirements. We apply it to human GM12878 to better characterize chromatin across repetitive regions, as well as single insect samples (a mosquito and a Mediterranean fruit fly).

submitted 22 days ago • 0 comments

Vielen Dank @ghga.bsky.social der podcast hat viel Spass gemacht! Vielen Dank dass wir unserer Solve-RD Erfahrungen teilen durften. …und die Chancen auf eine noch größere europaweite Zusammenarbeit zu seltenen Erkrankungen in @erdera.bsky.social erläutern konnten!

submitted 23 days ago • 1 comment

📣 Neue Podcast-Folge: Ungelöste Fälle? Genetische Re-Analyse! Solve-RD ermöglicht durch genetische Re-Analyse Diagnosen für viele undiagnostizierte Patient:innen. Dr. Holm Graeßner & @ahoischen.bsky.social erzählen mehr. Jetzt reinhören: codedeslebens.podigee.io/37-genetisch...

submitted 23 days ago • 0 comments

Abstract submission deadline extended to Monday, February 03, 23:59 hrs CET (no exceptions). Last chance to submit an abstract for inclusion in the programme of #eshg2025 #hybridconference! More information on: t.co/26f98JviOZ

submitted 28 days ago • 1 comment

Few more days from now everyone - join us in Milan — submit an abstract by Monday!

submitted 28 days ago • 0 comments

Two more days until the abstract submission deadline for #eshg2025 #hybridconference! Do not forget to submit your abstract until Thursday, January 30, 2025, 23.59 h CET. All information can be found on our website: t.co/hW4inHNm2j

submitted 30 days ago • 0 comments

Rare disease research relies on collecting genomic and clinical data across multiple countries. Learn more about the Solve-RD project and how it aims to collect and harmonise #raredisease data across multiple European partners. 🧬🖥️ www.ebi.ac.uk/about/news/a...

submitted 30 days ago • 1 comment

A collaborative reanalysis of genomic data successfully diagnosed rare diseases in 12.6% of previously undiagnosed families across Europe. by Laurie S, Steyaert W (...) Hoischen A et 111 al. in Nat Med #MedSky 📖 read the article:

submitted 32 days ago • 0 comments

🎓Registration is now open for the Clinical Genomics & NGS Course (May 4–9) in Bertinoro, Italy. 💼 Scholarship application deadline for the ESHG Precision Medicine Hybrid Workshop (April 9–11) is on January 26. More information on these and other ESHG courses: www.eshg.org/courses

submitted 38 days ago • 0 comments

One more week until the abstract submission deadline for #eshg2025 #hybridconference! Do not forget to submit your abstract until Thursday, January 30, 2025, 23.59 h CET. All information can be found on our website: 2025.eshg.org/abstracts/ #genetics #genomes

submitted 35 days ago • 0 comments

Nice coverage of the recent Solve-RD manuscript in: Ärzteblatt (in German): www.aerzteblatt.de/nachrichten/...

submitted 37 days ago • 1 comment

Rare disease patients often face years without answers. Thanks to #Solve_RD, 500+ new diagnoses were made by reanalysing data for 6,447 patients. 🚀 Now, ERDERA aims to analyse 100,000 cases with advanced tech! 📖 Read the article: loom.ly/E--1T4s

submitted 38 days ago • 0 comments

Our wonderful course in beautiful Bertinoro is coming up again! Strongly recommended - great speaker line-up once again! @eshg.bsky.social @jungeakademie.bsky.social

submitted 38 days ago • 1 comment

Thanks for the nice joint interview with Steve Laurie and Richarda de Voer @genomeweb.bsky.social! www.genomeweb.com/sequencing/s...

submitted 40 days ago • 0 comments

Ruim 500 Europese patiënten met onbekende aandoening hebben door nieuw genetisch onderzoek een diagnose gekregen. ➡️ www.radboudumc.nl/nieuws/2024/... @ahoischen.bsky.social

submitted 41 days ago • 0 comments

And a nice press release about the recent Solve-RD work @erdera.bsky.social @radboudumc.bsky.social www.radboudumc.nl/en/news-item...

submitted 41 days ago • 1 comment

It’s a privilege to announce Solve-RD’s latest manuscript based on years of work: “Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses” www.nature.com/articles/s41... A thread (1/n)

submitted 41 days ago • 1 comment

HiFi long-read genomes for difficult-to-detect, clinically relevant variants www.cell.com/ajhg/fulltex...

submitted 44 days ago • 0 comments

BREAKING: A new study from @radboudumc demonstrates the advantage of #PacBio technology in identifying genetic causes of #RareDiease. The key outcomes showcase the potential for broader adoption of HiFi long-read #sequencing into clinical practice. www.pacb.com/press_releas...

submitted 44 days ago • 0 comments

And now including our press release @radboudumc.bsky.social www.radboudumc.nl/en/news-item...

submitted 44 days ago • 2 comments

📣New today! 📰HiFi long-read genomes for difficult-to-detect, clinically relevant variants 🧑‍🤝‍🧑 @ahoischen.bsky.social @christiangilissen.bsky.social &co

submitted 45 days ago • 0 comments

Image a set of 100 rare disease cases with the most difficult-to-detect mutations a human genetics lab can be faced with. …many of which very difficult or even impossible to detect with (short-read) sequencing methods, and/or requiring additional orthogonal tests… www.cell.com/ajhg/abstrac...

submitted 45 days ago • 1 comment

Have a look at our latest work on PacBio LRS showing its potential as a single technology to accurately identify all types of clinically relevant variants. www.sciencedirect.com/science/arti...

submitted 45 days ago • 1 comment