Wolfram Höps
@wolfram-hops.bsky.social
Postdoc at RadboudUMC. Likes bioinformatics, long reads and all kinds of genomic variants
🎉🧬! :)
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...
www.cell.com/ajhg/abstrac...
HiFi long-read genomes for difficult-to-detect, clinically relevant variants
Detecting pathogenic germline variants in the clinic remains technically challenging.
We analyzed 145 previously identified, hard-to-detect variants in 100 samples using
HiFi long-read sequencing (LRS...
www.cell.com
January 16, 2025 at 8:41 AM
🎉🧬! :)