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Single Molecule Molecular Inversion Probes for High Throughput Germline Screenings in Dystonia

Background: This study's aim was to investigate a large cohort of dystonia patients for pathogenic and rare variants in the ATM gene, making use of a new, cost-efficient enrichment technology for NGS-based screening.Methods: Single molecule Molecular Inversion Probes (smMIPs) were used for targeted...

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Principais autores: Michaela Pogoda, Franz-Joachim Hilke, Ebba Lohmann, Marc Sturm, Florian Lenz, Jakob Matthes, Francesc Muyas, Stephan Ossowski, Alexander Hoischen, Ulrike Faust, Ilnaz Sepahi, Nicolas Casadei, Sven Poths, Olaf Riess, Christopher Schroeder, Kathrin Grundmann
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2019-12-01
coleção:Frontiers in Neurology
Assuntos:
dystonia
ATM
NGS
ataxia-telangiectasia
MIPs
Acesso em linha:https://www.frontiersin.org/article/10.3389/fneur.2019.01332/full
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