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

• Päätekijät: M. Tarozzi (Tekijä), A. Bartoletti-Stella (Tekijä), D. Dall'Olio (Tekijä), T. Matteuzzi (Tekijä), S. Baiardi (Tekijä), P. Parchi (Tekijä), G. Castellani (Tekijä), S. Capellari (Tekijä)
• Aineistotyyppi: Kirja
• Julkaistu: BMC, 2022-02-01T00:00:00Z.
• Aiheet: article
• Linkit: Connect to this object online.

Abstract 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...