Creating a reproducible VRS mapping and validation library for MaveDB
- Mentors
- Alan Rubin, Alex H. Wagner, PhD
- Organization
- Global Alliance for Genomics and Health
- Technologies
- python, Relational Databases
- Topics
- bioinformatics, genetics
The aim of this project is to make it easier to use MaveDB datasets for clinical use, as most of the MaveDB datasets are not annotated in a way that allows them to be combined with other genomic data. Datasets in MaveDB will be mapped to the human genome using the GA4GH Variant Representation Specification (VRS). This can be achieved by mapping sequences using alignment algorithms, transforming the results into VRS objects, and validating the results.