Analysis of genomic variants in schwannomatosis
The goal of this project is to characterize and prioritize both germline and somatic genomic variants identified in schwannomatosis patients (a rare cancer predisposition syndrome), and in doing so develop a pipeline that can be applied to related rare disease cohorts. Studies in this disease area generally focus on a few genes of interest and genome-wide analyses are deeply needed. Initial characterization will be limited to single nucleotide variants and small insertion/deletion variants, but may expand to include structural variants. We would prefer that the final pipeline be packaged as a tool that can be applied to other related datasets. Prioritized variants may then be utilized in additional analyses as part of our larger, community-based project.
Variant analysis, Variant interpretation, Nextflow pipelines
Avg. Hours / Week
Robert Allaway, PhD
Sasha Scott, PhD
Publication if successful?
Trainee authorship criteria (if applicable)
We will follow ICJME authorship guidelines: https://www.icmje.org/recommendations/browse/roles-and-responsibilities/defining-the-role-of-authors-and-contributors.html