Genome sequencing to discover and analyse an individual’s genotype can help understand potential disease mechanisms and improve diagnosis, however the reference sequences currently used in this process were derived from a limited number of people which limits the variants that can be discovered. As part of the Human Pangenome Reference Consortium (HPRC), we will work to enable the adoption a new graph genome reference, constructed from the sequences of over 300 individuals of diverse ancestries.
You will help adapt our variation tools, pipelines and resources to utilise this new reference and make pangenome data available to the community. Your primary responsibilities will include:
- Investigating and integrating new data formats and tools
- Developing and maintaining efficient methods for large-scale variant data management
- Developing and maintaining tools for the functional annotation of variants
- Collaborating with members of the broader Ensembl team both on specific development projects and to contribute to regular data/software releases
- Engaging with the HPRC to understand tool availability and data quality
- Sharing our work at internal meetings and scientific conferences and engaging with our user community to provide support and understand their needs
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