Relevance of next generation sequencing (NGS) data re-analysis in the diagnosis of monogenic diseases leading to organ failure.
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| Title: | Relevance of next generation sequencing (NGS) data re-analysis in the diagnosis of monogenic diseases leading to organ failure. |
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| Authors: | Saglia C; Immunogenetics and Transplant Biology Service, University Hospital 'Città della Salute e della Scienza di Torino', Turin, Italy.; Department of Medical Sciences, University of Turin, Turin, Italy., Bracciamà V; Immunogenetics and Transplant Biology Service, University Hospital 'Città della Salute e della Scienza di Torino', Turin, Italy.; Department of Medical Sciences, University of Turin, Turin, Italy., Trotta L; GenomSys SA, Lausanne, Switzerland., Mioli F; Immunogenetics and Transplant Biology Service, University Hospital 'Città della Salute e della Scienza di Torino', Turin, Italy.; Department of Medical Sciences, University of Turin, Turin, Italy., Faini AC; Immunogenetics and Transplant Biology Service, University Hospital 'Città della Salute e della Scienza di Torino', Turin, Italy.; Department of Medical Sciences, University of Turin, Turin, Italy., Brach Del Prever GM; Immunogenetics and Transplant Biology Service, University Hospital 'Città della Salute e della Scienza di Torino', Turin, Italy.; Department of Medical Sciences, University of Turin, Turin, Italy., Kalantari S; Immunogenetics and Transplant Biology Service, University Hospital 'Città della Salute e della Scienza di Torino', Turin, Italy.; Department of Medical Sciences, University of Turin, Turin, Italy., Luca M; Immunogenetics and Transplant Biology Service, University Hospital 'Città della Salute e della Scienza di Torino', Turin, Italy.; Department of Medical Sciences, University of Turin, Turin, Italy., Romeo CM; Immunogenetics and Transplant Biology Service, University Hospital 'Città della Salute e della Scienza di Torino', Turin, Italy.; Department of Medical Sciences, University of Turin, Turin, Italy., Scolari C; Immunogenetics and Transplant Biology Service, University Hospital 'Città della Salute e della Scienza di Torino', Turin, Italy.; Department of Medical Sciences, University of Turin, Turin, Italy., Peruzzi L; Pediatric Nephrology Dialysis and Transplantation Unit, University Hospital 'Città della Salute e della Scienza di Torino', Turin, Italy., Calvo PL; Pediatric Gastroenterology Unit, University Hospital 'Città della Salute e della Scienza di Torino', Turin, Italy., Mussa A; Pediatric Clinical Genetics, University Hospital 'Città della Salute e della Scienza di Torino', Turin, Italy.; Department of Public Health and Pediatric Sciences, University of Turin, Turin, Italy., Fenoglio R; Nephrology and Dialysis Unit, Center of Research on Immunopathology and Rare Diseases, CMID, San Giovanni Bosco Hospital, Turin, Italy.; Department of Clinical and Biological Sciences, University of Turin, Turin, Italy., Roccatello D; Nephrology and Dialysis Unit, Center of Research on Immunopathology and Rare Diseases, CMID, San Giovanni Bosco Hospital, Turin, Italy.; Department of Clinical and Biological Sciences, University of Turin, Turin, Italy., Alberti C; GenomSys SA, Lausanne, Switzerland., Carli D; Immunogenetics and Transplant Biology Service, University Hospital 'Città della Salute e della Scienza di Torino', Turin, Italy.; Department of Medical Sciences, University of Turin, Turin, Italy., Amoroso A; Immunogenetics and Transplant Biology Service, University Hospital 'Città della Salute e della Scienza di Torino', Turin, Italy.; Department of Medical Sciences, University of Turin, Turin, Italy., Deaglio S; Immunogenetics and Transplant Biology Service, University Hospital 'Città della Salute e della Scienza di Torino', Turin, Italy.; Department of Medical Sciences, University of Turin, Turin, Italy., Vaisitti T; Immunogenetics and Transplant Biology Service, University Hospital 'Città della Salute e della Scienza di Torino', Turin, Italy. tiziana.vaisitti@unito.it.; Department of Medical Sciences, University of Turin, Turin, Italy. tiziana.vaisitti@unito.it. |
| Source: | BMC medical genomics [BMC Med Genomics] 2023 Nov 27; Vol. 16 (1), pp. 303. Date of Electronic Publication: 2023 Nov 27. |
| Publication Type: | Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: BioMed Central Country of Publication: England NLM ID: 101319628 Publication Model: Electronic Cited Medium: Internet ISSN: 1755-8794 (Electronic) Linking ISSN: 17558794 NLM ISO Abbreviation: BMC Med Genomics Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1755-8794 |
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| DOI: | 10.1186/s12920-023-01747-w |
