Available resources and challenges for the clinical annotation of somatic variations.

Abstract excerpt

Next-generation sequencing (NGS) has become an important tool for identifying clinically relevant variants in both inherited disorders and oncology. Variants annotation that enables the creation of meaningful clinical reports often requires mining multiple publicly available databases. There are a number of such resources that have been designed to catalog and mine a plethora of germline variants or mutations....

Topics

• Databases, Genetic
• Female
• Gene Expression Regulation, Neoplastic
• Genetic Predisposition to Disease
• Genetic Variation
• Genome, Human
• Health Resources
• High-Throughput Nucleotide Sequencing
• Humans
• Male
• Mutation