Article
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...
Topics
- Alleles
- Computational Biology
- DNA Copy Number Variations
- Disease Management
- Genetic Association Studies
- Genetic Predisposition to Disease
- Genetic Testing
- Genomics
- Hemangioma, Cavernous, Central Nervous System
- High-Throughput Nucleotide Sequencing
- Humans
- Microtubule-Associated Proteins