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Identification of recurrent genetic patterns from targeted sequencing panels with advanced data science: a case-study on sporadic and genetic neurodegenerative diseases

BACKGROUND: Targeted Next Generation Sequencing is a common and powerful approach used in both clinical and research settings. However, at present, a large fraction of the acquired genetic information is not used since pathogenicity cannot be assessed for most variants. Further complicating this sce...

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Detalles Bibliográficos
Autores principales:	Tarozzi, M., Bartoletti-Stella, A., Dall’Olio, D., Matteuzzi, T., Baiardi, S., Parchi, P., Castellani, G., Capellari, S.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2022
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8830183/ https://www.ncbi.nlm.nih.gov/pubmed/35144616 http://dx.doi.org/10.1186/s12920-022-01173-4

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