Working Group: Mutation Detection in Complex Mixtures

Detecting mutations using next generation sequencing data can be particularly difficult when the sample being sequenced is actually a complex mixture of samples with differing genotypes.  For example, when sequencing a tumor sample, not all biopsied cells will necessarily be tumor cells, and therefore, somatic mutations may only be present in a subset of sequenced cells, leading to a complex mixture of genotypes.  Standard approaches to genotype calling do not appropriately account for this heterogeneity.  We are working on methods for detecting mutations in such samples with applications in cancer, epilepsy, and non-invasive prenatal testing.

Topics –

  • Calling somatic/post-zygotic mutations from next generation sequence data
  • Non-invasive mutation detection via next generation sequencing of cell free DNA