Article
Actionable Genes, Core Databases, and Locus-Specific Databases.
Human mutation - 1 Dec 2016
Pinard Amélie, Miltgen Morgane, Blanchard Arnaud, Mathieu Hélène, Desvignes Jean-Pierre, Salgado David, Fabre Aurélie, Arnaud Pauline, Barré Laura, Krahn Martin, Grandval Philippe, Olschwang Sylviane, Zaffran Stéphane, Boileau Catherine, Béroud Christophe, Collod-Béroud Gwenaëlle
Abstract excerpt
Adoption of next-generation sequencing (NGS) in a diagnostic context raises numerous questions with regard to identification and reports of secondary variants (SVs) in actionable genes. To better understand the whys and wherefores of these questioning, it is necessary to understand how they are selected during the filtering process and how their proportion can be estimated. It is likely that SVs are...
Topics
- Atherosclerosis
- Computational Biology
- Databases, Genetic
- Genetic Predisposition to Disease
- High-Throughput Nucleotide Sequencing
- Humans
- Molecular Sequence Annotation
- Mutation
- Neoplasms