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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.

Nextflow, Bash

Variant analysis, Variant interpretation, Nextflow pipelines

Project Stage


Avg. Hours / Week


Project Provider

Robert Allaway, PhD

Commitment (Months)


Spots Open


Project Lead

Sasha Scott, PhD

Publication if successful?


Trainee authorship criteria (if applicable)

Required Skill Assessments

Working with Genomic Variant Files

Linux for Bioinformatics

R Programming

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