Exome and genome sequencing for the diagnosis of rare diseases
Genome sequencing is an effective way to diagnose RD. Genome data provide a comprehensive basis for continuous re-evaluation and are superior to exome data in this respect. The integration of genome sequencing into standard care is now under evaluation as part of the nationwide "Model project genome sequencing" in Germany.
Authors
- Jeremias Krause (ORCID: https://orcid.org/0000-0001-9915-7400)
- Eva Lausberg (ORCID: https://orcid.org/0000-0002-2042-0294)
- Natja Haag (ORCID: https://orcid.org/0000-0002-2482-5969)
- Katja Eggermann (ORCID: https://orcid.org/0000-0002-8706-137X)
- Annette Lischka (ORCID: https://orcid.org/0000-0001-8042-4361)
- Nergis Güzel (ORCID: https://orcid.org/0009-0002-1030-2179)
- Sofia D'Augello
- Cordula Knopp
- Danique Beijer
- Thomas Eggermann
- Jarik Rüdebusch
- Miriam Elbracht
- Florian Kraft
- Larissa Mattern
- Robert Meyer
- Marcel G Bourgeois
- Dong Sun-Julia Suh
- Matthias Begemann
- Ingo Kurth
- Eva Perchalla
Publication Details
- Journal
- Deutsches Ärzteblatt international
- Published
- 2026-03-24
- DOI
- https://doi.org/10.3238/arztebl.m2026.0030
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00