Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases
| العنوان: | Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases |
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| المؤلفون: | Bullich G, Matalonga L, Pujadas M, Papakonstantinou A, Piscia D, Tonda R, Artuch-Iriberri R, Gallano P, Garrabou G, González JR, Grinberg-Vaisman DR, Guitart M, Laurie S, Lázaro C, Luengo C, Martí R, Milà M, Ovelleiro D, Parra G, Pujol A, Tizzano E, Macaya A, Palau F, Ribes A, Pérez-Jurado LA, Beltran S |
| المصدر: | JOURNAL OF MOLECULAR DIAGNOSTICS r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu instname |
| بيانات النشر: | AMER SOC INVESTIGATIVE PATHOLOGY, INC, 2022. |
| سنة النشر: | 2022 |
| الوصف: | Many patients experiencing a rare disease remain undiagnosed even after genomic testing. Reanalysis of existing genomic data has shown to increase diagnostic yield, although there are few systematic and comprehensive reanalysis efforts that enable collaborative interpretation and future reinterpretation. The Undiagnosed Rare Disease Program of Catalonia project collated previously inconclusive good quality genomic data (panels, exomes, and genomes) and standardized phenotypic profiles from 323 families (543 individuals) with a neurologic rare disease. The data were reanalyzed systematically to identify relatedness, runs of homozygosity, consanguinity, single-nucleotide variants, insertions and deletions, and copy number variants. Data were shared and collaboratively interpreted within the consortium through a customized Genome-Phenome Analysis Platform, which also enables future data reinterpretation. Reanalysis of existing genomic data provided a diagnosis for 20.7% of the patients, including 1.8% diagnosed after the generation of additional genomic data to identify a second pathogenic heterozygous variant. Diagnostic rate was significantly higher for family-based exome/genome reanalysis compared with singleton panels. Most new diagnoses were attributable to recent gene-disease associations (50.8%), additional or improved bioinformatic analysis (19.7% ), and standardized phenotyping data integrated within the Undiagnosed Rare Disease Program of Catalonia Genome-Phenome Analysis Platform functionalities (18%). |
| تدمد: | 1525-1578 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::b82d9f5bc93ceb2efce0bc9debf9ab42 http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=21508 |
| Rights: | OPEN |
| رقم الانضمام: | edsair.RECOLECTA.....b82d9f5bc93ceb2efce0bc9debf9ab42 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 15251578 |
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