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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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Detalles Bibliográficos
Autores principales: Zaghi, Mattia, Banfi, Federica, Bellini, Edoardo, Sessa, Alessandro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8616022/
https://www.ncbi.nlm.nih.gov/pubmed/34827709
http://dx.doi.org/10.3390/biom11111713