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

• Main Authors: Mario Cesare Nurchis (Author), Gerardo Altamura (Author), Maria Teresa Riccardi (Author), Francesca Clementina Radio (Author), Giovanni Chillemi (Author), Enrico Silvio Bertini (Author), Jacopo Garlasco (Author), Marco Tartaglia (Author), Bruno Dallapiccola (Author), Gianfranco Damiani (Author)
• Format: Book
• Published: BMC, 2023-05-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...