Perspective: The Human Pangenome Project – a global resource to map genomic diversity
, including metadata provisions, and makes any data generated from the same samples readily tractable. The INSDC will archive all reads and assembly data, and other relevant archives will be used, as appropriate for a specific data type. Each haplotype assembly will receive a genome collections accession number , which we will version as we make assembly updates.
To facilitate adoption, we will explore who the user community will be, their needs and, most importantly, the technical and non-technical barriers that they may encounter. Addressing potential obstacles is essential, as we know that adopting an updated version of the linear reference can result in significant bottlenecks for many laboratories.
We will develop liftOver tools that make it easy to go backward from the pangenome reference to GRCh37 or GRCh38 when necessary. We already have algorithms for this purpose and demonstration of functionality to predict read mappings from a prototype pangenome to GRCh37 or GRCh38. We will precompute all mappings between the previous assemblies and the pangenome and provide these coordinate translation functions with the pangenome reference release.
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