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

• Главные авторы: M. Tarozzi (Автор), A. Bartoletti-Stella (Автор), D. Dall'Olio (Автор), T. Matteuzzi (Автор), S. Baiardi (Автор), P. Parchi (Автор), G. Castellani (Автор), S. Capellari (Автор)
• Формат: ‌
• Опубликовано: BMC, 2022-02-01T00:00:00Z.
• Предметы: article
• Online-ссылка: 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...