Towards genomic-Newborn Screening: Technical feasibility of Exome Sequencing starting from dried blood spots

Towards genomic-Newborn Screening: Technical feasibility of Exome Sequencing starting from dried blood spots

Each year thousands of babies are born with rare genetic disorders not identified by current NBS panels, due to programs which are not yet optimal. Next-generation sequencing technologies have the potential to overcome many NBS drawbacks and provide large amounts of molecular data, broadening the nu...

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Bibliographic Details
Main Authors: Alessia Mauri, Clarissa Berardo, Davide Biganzoli, Andrea Meta, Sara Benedetti, Federica Rey, Letizia Messa, Gian Vincenzo Zuccotti, Stephana Carelli, Luisella Alberti, Cristina Cereda
Format: Article
Language:English
Published: Elsevier 2024-06-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Genomic-NBS
Dried blood spot
NGS from DBS
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426924000272

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http://www.sciencedirect.com/science/article/pii/S2214426924000272

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