🔬 Scientist | PhD candidate in Biochemistry & Molecular Biology | 🧬 Genomics & Rare Diseases | Researcher
@UKSH Kiel
Daniel Kaschta
Loading...
Grateful to the UKSH Genome Consortium and all collaborators. #RareDisease #Genomics #WholeGenomeSequencing #TrioSequencing #ClinicalGenomics #GenomeMedicine #Diagnostics #GeneticTesting
www.uksh.de/Das+UKSH/Neu...
Daniel Kaschta
Why this matters: genome interpretation evolves over time, but fully manual reanalysis is difficult to scale in routine diagnostics. Automated prioritisation may help make periodic reanalysis more feasible.
Take-home: reanalysis after ~1.8 years gives a modest but clinically relevant diagnostic gain. Scalable workflows could help unresolved rare disease cases benefit from evolving genomic knowledge.
Beyond diagnostic yield, the study provides practical insights for labs evaluating GS as a new first-tier standard, including the added value of inheritance information for less-experienced teams and the types of variants GS captures that SoC often misses.
Our medRxiv preprint is out: Automated versus manual reanalysis in rare disease genomics. We reanalysed 377 rare disease cases from a routine diagnostic genome sequencing cohort, comparing the established manual workflow with Talos-based automation. www.medrxiv.org/content/10.6...
✨ Delighted to share our open-access paper in Genome Medicine is finally fully published:
genomemedicine.biomedcentral.com/articles/10....
After a mean reanalysis interval of 660 days, manual review added 3 P/LP cases and 2 newly classified VUS. Talos recovered all 3 new P/LP findings and 1 of 2 VUS, while reducing review to ~3 candidate variants per case.
Concordance analysis showed that Talos captured most manually reported P/LP findings: 80.0% concordance in singleton cases and 75.2% in trio cases, rising to 82.8% when considering proband-only findings. VUS concordance was lower, as expected for a P/LP-focused workflow.
www.medrxiv.org
Hope to meet many of you there!
Daniel Kaschta
Daniel Kaschta
Daniel Kaschta
Daniel Kaschta
Daniel Kaschta
Daniel Kaschta
Daniel Kaschta
Wow!
Amazing - and first glimpses of hope for patients and families with this devastating rare disease.
www.bbc.com/news/article...
