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

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

Abstract 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 disorder...

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Bibliographic Details
Main Authors: Mario Cesare Nurchis, Gerardo Altamura, Maria Teresa Riccardi, Francesca Clementina Radio, Giovanni Chillemi, Enrico Silvio Bertini, Jacopo Garlasco, Marco Tartaglia, Bruno Dallapiccola, Gianfranco Damiani
Format: Article
Language:English
Published: BMC 2023-05-01
Series:Archives of Public Health
Subjects:
NGS
Paediatrics
Diagnostic yield
Public health
Health policy
Online Access:https://doi.org/10.1186/s13690-023-01112-4

Internet

https://doi.org/10.1186/s13690-023-01112-4

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