First-Tier Versus Last-Tier Trio Whole-Genome Sequencing for the Diagnosis of Pediatric-Onset Rare Diseases.

doi:10.1111/cge.14760

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First-Tier Versus Last-Tier Trio Whole-Genome Sequencing for the Diagnosis of Pediatric-Onset Rare Diseases.

Clinical genetics - 1 Oct 2025

Lucca Camilla, Rosina Erica, Pezzani Lidia, Piazzolla Daniela, Spaccini Luigina, Scatigno Agnese, Gasperini Serena, Pezzoli Laura, Cereda Anna, Milani Donatella, Cattaneo Elisa, Cavallari Ugo, Frigeni Marco, Marchetti Daniela, Daolio Cecilia, Giordano Laura, Bellini Matteo, Goisis Lucrezia, Mongodi Chiara, Tonduti Davide, Pilotta Alba, Cazzaniga Giovanni, Furlan Francesca, Bedeschi Maria Francesca, Mangili Giovanna, Bonanomi Ezio, Iascone Maria

Abstract excerpt

Despite advances in diagnostics, children with rare genetic disorders still face extended diagnostic odysseys, delaying appropriate clinical management, and placing burdens on families and healthcare resources. Whole-genome sequencing (WGS) offers a more comprehensive interrogation of the genome than other genetic tests, but its use in clinical practice remains limited. This study compared diagnostic rates,...

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PMID: 40274276
DOI: 10.1111/cge.14760
PMCID: PMC12405173

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