Evaluating genome sequencing strategies: trio, singleton, and standard testing in rare disease diagnosis.
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| Title: | Evaluating genome sequencing strategies: trio, singleton, and standard testing in rare disease diagnosis. |
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| Authors: | Kaschta D; Institute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany., Post C; Institute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany., Gaass F; Institute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany., Al-Tawil M; Department of Neonatology and Pediatric Intensive Care Medicine, Westphalian Children's Center Dortmund, University of Witten-Herdecke, Witten, Germany., Arriens V; Institute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany., Balachandran S; Institute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany., Bäumer T; Institute of Systems Motor Science, University Medical Center Schleswig-Holstein, University of Lübeck, Lübeck, Germany., Berge V; Institute of Medical Genetics, University of Zürich, Zurich, Switzerland., Birgel F; Institute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany., Dalski A; Institute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany., Dittmar M; Institute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany., Franke A; Institute of Clinical Molecular Biology, Kiel University, Kiel, Germany., Franzenburg S; Institute of Clinical Molecular Biology, Kiel University, Kiel, Germany., Fuß J; Institute of Clinical Molecular Biology, Kiel University, Kiel, Germany., Gehring B; Neurology Center, Itzehoe, Germany., Gembicki R; Institute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany., Greiten B; Institute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany., Grohte K; Institute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany., Hanker B; Institute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany., Händler K; Institute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany., Harder L; Institute of Tumorgenetic Nord, Kiel, Germany., Hellenbroich Y; Institute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany., Herget T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Herrmann G; Division of Paediatric Endocrinology and Diabetes, Department of Paediatrics and Adolescent Medicine, University Medical Center Ulm, Ulm, Germany., Hiort O; Division of Paediatric Endocrinology and Diabetes, Department of Paediatrics and Adolescent Medicine, University of Lübeck, Lübeck, Germany., Hoff K; Institute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany., Hoffmann B; Practice for Neuropaediatrics, Lüneburg, Germany., Hornig N; Institute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany., Hüning I; Institute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany., Kautza-Lucht M; Institute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany., Köhler J; Institute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany., Liegmann AS; Institute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany., Lisfeld J; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Löscher BS; Institute of Clinical Molecular Biology, Kiel University, Kiel, Germany., Margraf NG; Epilepsy Center Kiel, Department of Neurology, University Hospital Schleswig-Holstein, Christian-Albrechts-University, Kiel, Germany.; Department of Neurology, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University , Kiel, Germany., Meyenborg M; Institute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany., Möllring A; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Muhle H; Department of Neuropediatrics, University Medical Center Schleswig-Holstein, Christian-Albrechts University, Kiel, Germany., Penas EMM; Institute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany., Nommels H; Group Practice for Pediatrics and Adolescent Medicine, Husum, Germany., Papingi D; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Poggenburg I; Practice for Neuropaediatrics, Lüneburg, Germany., Pozojevic J; Institute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany., Rosenstiel P; Institute of Clinical Molecular Biology, Kiel University, Kiel, Germany., Recke A; Department of Dermatology, Allergology and Venereology, University Medical Center Schleswig-Holstein, University of Lübeck, Lübeck, Germany., Roberts K; Department of Neuropediatrics, University Medical Center Schleswig-Holstein, Christian-Albrechts University, Kiel, Germany., Rösler L; Institute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany.; Center for Rare Diseases, University Medical Center Schleswig-Holstein, University of Kiel, Kiel, Germany., Rust F; Institute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany., Salewski MB; Institute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany., Schau-Römer K; Institute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany., Schlein C; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Sreenivasan VKA; Institute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany., Toutouna L; Institute of Human Genetics, Faculty of Medicine, University Medical Center Freiburg, University of Freiburg, Freiburg, Germany., Utermann-Thüsing C; Institute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany., van der Ven AT; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Volk AE; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Wehnert J; Institute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany., Wilson S; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Woitschach R; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Yumiceba V; Institute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany., Zühlke C; Institute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany., Münchau A; Institute of Systems Motor Science, University Medical Center Schleswig-Holstein, University of Lübeck, Lübeck, Germany.; Center for Rare Diseases, University Medical Center Schleswig-Holstein, University of Lübeck, Lübeck, Germany., Brüggemann N; Section for Movement Disorder, Department of Neurology, University Medical Center Schleswig-Holstein, University of Lübeck, Lübeck, Germany.; Institute of Neurogenetics, University Medical Center Schleswig-Holstein, University of Lübeck, Lübeck, Germany., Vater I; Institute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany., Caliebe A; Institute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany., Nagel I; Institute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany. Inga.nagel@uksh.de., Spielmann M; Institute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany. malte.spielmann@uksh.de.; DZHK (German Centre for Cardiovascular Research), Partner SiteHamburg/ , Lübeck/Kiel, Lübeck, Germany. malte.spielmann@uksh.de. |
| Source: | Genome medicine [Genome Med] 2025 Sep 18; Vol. 17 (1), pp. 100. Date of Electronic Publication: 2025 Sep 18. |
| Publication Type: | Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: BioMed Central Country of Publication: England NLM ID: 101475844 Publication Model: Electronic Cited Medium: Internet ISSN: 1756-994X (Electronic) Linking ISSN: 1756994X NLM ISO Abbreviation: Genome Med Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1756-994X |
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| DOI: | 10.1186/s13073-025-01516-7 |
