Many genetics labs have adopted exome sequencing as a first-tier response for individuals with suspected rare and inherited diseases. While identifying single nucleotide variants (SNVs) and small insertions/deletions (indels) from NGS data has become routine and well established, it is still quite a challenge to accurately detect germline copy-number variations (CNVs) from exome sequencing data as compared to the more conventional methodologies for CNV detection, including comparative genome hybridization arrays.
Download this app note to discover a solution that enables:
- Simultaneous detection of SNVs, indels and CNVs
- Advanced variant classification and prioritization for rapid interpretation and reporting
- Efficient and cost-effective exome sequencing
