Novel computational algorithms for discovery of different complex types of variants using ever changing sequencing technologies.

Accurate discovery of all types of variants is crucial for solving the missing heritability problem in complex disorders. It was recently shown that a majority of small and medium size copy number variations (CNV) are currently not been detected by our best practices. In addition, no method exists for discovery of more complex types of structural variants, such as Inversion-Duplications or Dup-Inv-Dup (Figure 1). We are developing novel computational algorithms to discover the neglected and complex variants using different sequencing technologies.

A tutorial on structural variation discovery methods in computational genomics summer school as part of IPAM (institute of pure and applied mathematics) at UCLA. The video of the tutorial can be seen here