Comparison of first ‐tier whole‐exome sequencing with a multi‐step traditional approach for diagnosing paediatric outpatients: An Italian prospective study

ConclusionOur findings represent real-practice evidence of how first-tier genome-wide sequencing tests significantly improve the DR for paediatric outpatients with a suspected underlying genetic aetiology, thereby allowing a time-saving setting of the correct management, follow-up and family planning.

Source: Molecular Genetics & Genomic Medicine - December 2, 2023 Category: Genetics & Stem Cells Authors: Erica Rosina, Lidia Pezzani, Erika Apuril, Laura Pezzoli, Daniela Marchetti, Matteo Bellini, Camilla Lucca, Camilla Meossi, Marta Massimello, Milena Mariani, Agnese Scatigno, Elisa Cattaneo, Lorenzo Colombo, Silvia Maitz, Anna Cereda, Donat Tags: ORIGINAL ARTICLE Source Type: research