Additional file 1 of Relevance of next generation sequencing (NGS) data re-analysis in the diagnosis of monogenic diseases leading to organ failure

Saglia, Claudia; Bracciamà, Valeria; Trotta, Luca; Mioli, Fiorenza; Faini, Angelo Corso; Brach Del Prever, Giulia Margherita; Kalantari, Silvia; Luca, Maria; Romeo, Carmelo Maria; Scolari, Caterina; Peruzzi, Licia; Calvo, Pier Luigi; Mussa, Alessandro; Fenoglio, Roberta; Roccatello, Dario; Alberti, Claudio; Carli, Diana; Amoroso, Antonio; Deaglio, Silvia; Vaisitti, Tiziana

doi:10.6084/m9.figshare.24647105.v1

12920_2023_1747_MOESM1_ESM.docx (62 kB)

Additional file 1 of Relevance of next generation sequencing (NGS) data re-analysis in the diagnosis of monogenic diseases leading to organ failure

journal contribution

posted on 2023-11-28, 04:40 authored by Claudia Saglia, Valeria Bracciamà, Luca Trotta, Fiorenza Mioli, Angelo Corso Faini, Giulia Margherita Brach Del Prever, Silvia Kalantari, Maria Luca, Carmelo Maria Romeo, Caterina Scolari, Licia Peruzzi, Pier Luigi Calvo, Alessandro Mussa, Roberta Fenoglio, Dario Roccatello, Claudio Alberti, Diana Carli, Antonio Amoroso, Silvia Deaglio, Tiziana Vaisitti

Supplementary Material 1

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Ministero dell’Istruzione, dell’Università e della Ricerca Dipartimento di Scienze Mediche, Università degli Studi di Torino

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Clinical exome sequencing Next-generation sequencing Kidney Diseases Liver Diseases Genetic re-analysis Variant re-classification Re-alignment.

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Additional file 1 of Relevance of next generation sequencing (NGS) data re-analysis in the diagnosis of monogenic diseases leading to organ failure

Funding

Ministero dell’Istruzione, dell’Università e della Ricerca Dipartimento di Scienze Mediche, Università degli Studi di Torino

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