VEP

This project tried to identify causal mutations in familial whole genome sequencing for a single family with multiple affected relatives. We also investigated of UK Biobank (UKB) exomes and symptoms to explore variant effects and penetrance. For the affected family, we connected them with an experimental group studying one of their possible causal mutations, and they were able to report a possible causal mechanism.

We also identified individuals in the UKB with incorrect diagnoses.

Our end-to-end analysis including single nucleotide variants, copy number variants, and analysis of non-coding variants using published pipelines, including Marks Lab in-house tools.

This work was performed collaboratively with Kelly Brock.