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

• Main Authors: M. Tarozzi (Author), A. Bartoletti-Stella (Author), D. Dall'Olio (Author), T. Matteuzzi (Author), S. Baiardi (Author), P. Parchi (Author), G. Castellani (Author), S. Capellari (Author)
• Format: Book
• Published: BMC, 2022-02-01T00:00:00Z.
• Subjects: article
• Online Access: 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...