A practical guide to filtering and prioritizing genetic variants.

Abstract excerpt

Next-generation sequencing (NGS) of whole genomes and exomes is a powerful tool in biomedical research and clinical diagnostics. However, the vast amount of data produced by NGS introduces new challenges and opportunities, many of which require novel computational and theoretical approaches when it comes to identifying the causal variant(s) for a disease of interest. While workflows and associated software to...

Topics

• Algorithms
• Animals
• Databases, Genetic
• Exome
• Genetic Variation
• Genome
• Genomics
• High-Throughput Nucleotide Sequencing
• Humans
• Sequence Analysis, DNA
• Software