Challenges of targeted NGS analyses

David Langenberger
1ecSeq GmbH, Germany 

Breast cancer is one of the most distributed and investigated cancer types available and germline mutations in the BRCA1/2 genes are known to lead to a high lifetime probability of devel- oping breast cancer. The application of targeted next-generation sequencing (NGS) to this cancer type has enabled the develop- ment of cost-effective and rapid tools for diagnostics and treatment response/resistance. Even though available bioinformatics analysis tools for detecting mutations in BRCA1/2 are highly developed and popular, there are still issues with incorrectly called variants. This talk will cover some of these problems and suggest solutions for targeted NGS data analysis.

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