Rare Does Not Mean Worthless: How Rare Diseases Have Shaped Neurodevelopment Research in the NGS Era

The advent of next-generation sequencing (NGS) is heavily changing both the diagnosis of human conditions and basic biological research. It is now possible to dig deep inside the genome of hundreds of thousands or even millions of people and find both common and rare genomic variants and to perform...

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Détails bibliographiques
Auteurs principaux: Mattia Zaghi, Federica Banfi, Edoardo Bellini, Alessandro Sessa
Format: article
Langue:EN
Publié: MDPI AG 2021
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Accès en ligne:https://doaj.org/article/ee5e365aab4148eb825b97321157f28e
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