Whole genome sequencing diagnostic yield for paediatric patients with suspected genetic disorders: systematic review, meta-analysis, and GRADE assessment

BACKGROUND: About 80% of the roughly 7,000 known rare diseases are single gene disorders, about 85% of which are ultra-rare, affecting less than one in one million individuals. NGS technologies, in particular whole genome sequencing (WGS) in paediatric patients suffering from severe disorders of lik...

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Detalles Bibliográficos
Autores principales: Nurchis, Mario Cesare, Altamura, Gerardo, Riccardi, Maria Teresa, Radio, Francesca Clementina, Chillemi, Giovanni, Bertini, Enrico Silvio, Garlasco, Jacopo, Tartaglia, Marco, Dallapiccola, Bruno, Damiani, Gianfranco
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Systematic Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10210272/
https://www.ncbi.nlm.nih.gov/pubmed/37231492
http://dx.doi.org/10.1186/s13690-023-01112-4

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