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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:
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