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Next Generation Sequencing (NGS) Strategies for Genetic Testing of Cerebral Cavernous Malformation (CCM) Disease.

Methods in molecular biology (Clifton, N.J.) - 1 Jan 2020

Benedetti Valerio, Pellegrino Elisa, Brusco Alfredo, Piva Roberto, Retta Saverio Francesco

Abstract excerpt

The application of next generation sequencing (NGS) technique has a great impact on complex disease studies. Indeed, genetic heterogeneity, phenotypic variability, and disease rarity are all factors that make the traditional diagnostic approach to genetic disorders, whereby a specific gene is selected for sequencing based on the clinical phenotype, very challenging and obsolete.Exome sequencing, which sequences...

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PMID: 32524544
DOI: 10.1007/978-1-0716-0640-7_5

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