Article
Pitfalls of whole exome sequencing in undefined clinical conditions with a suspected genetic etiology.
Genes & genomics - 1 May 2023
Moresco Giada, Rondinone Ornella, Mauri Alessia, Costanza Jole, Santaniello Carlo, Colapietro Patrizia, Micaglio Emanuele, Marfia Giovanni, Pesenti Chiara, Grilli Federico, Rinaldi Berardo, Prada Elisabetta, Scuvera Giulietta, Villa Roberta, Bedeschi Maria Francesca, Miozzo Monica Rosa, Milani Donatella, Fontana Laura
Abstract excerpt
BACKGROUND: Whole-Exome Sequencing (WES) is a valuable tool for the molecular diagnosis of patients with a suspected genetic condition. In complex and heterogeneous diseases, the interpretation of WES variants is more challenging given the absence of diagnostic handles and other reported cases with overlapping clinical presentations. OBJECTIVE: To describe candidate variants emerging from trio-WES and possibly...
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