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Analyzing Complex Variants in Clinical NGS Data

Written by Pierian | Jun 29, 2021 2:14:00 PM

This insights paper delves into the best practices for analyzing gene fusions, splice-site variants, co-occurring variants, CNVs, TMB, and MSI within the context of somatic cancer. It also provides the best practices for analyzing complex genomic variants in the context of somatic cancer, In it, we discuss important considerations for interpreting and reporting five different types of variants in the context of somatic cancer:

  1. Co-occuring variants
  2. Exon skipping splice variants
  3. Gene fusions
  4. Copy number variants
  5. Tumor mutational burden (TMB) and microsatellite instability (MSI)

Download the White Paper here.