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Daniel Kaschta

@danielkaschta.bsky.social

9 followers 11 following 14 posts

🔬 Scientist | PhD candidate in Biochemistry & Molecular Biology | 🧬 Genomics & Rare Diseases | Researcher @UKSH Kiel

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Daniel Kaschta @danielkaschta.bsky.social · 22/05/2026

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.

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Daniel Kaschta @danielkaschta.bsky.social · 22/05/2026

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.

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Daniel Kaschta @danielkaschta.bsky.social · 22/05/2026

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.

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Daniel Kaschta @danielkaschta.bsky.social · 17/02/2025

Key Results: •tGS achieved the highest diagnostic yield (42.2% P/LP). •sGS followed closely at 41.3%, missing only de novo scientific variants. •GS outperformed SoC (38.6%) by better identification of non-coding, intronic, and STR variants. #RareDiseaseDiagnosis

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Daniel Kaschta @danielkaschta.bsky.social · 17/02/2025

Over 1,000 individuals from 448 rare disease cases participated. In this blind study we examined the diagnostic yield analyzing both prospective and retrospective data. #GenomeSequencing

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