ESPEYB20 12. The Year in Science and Medicine Genetics (5 abstracts)
12.1. A draft human pangenome reference
Wen-Wei Liao , Mobin Asri , Jana Ebler , Daniel Doerr , Marina Haukness , Glenn Hickey , Shuangjia Lu , Julian K Lucas , Jean Monlong , Haley J Abel…. , Erik Garrison , Tobias Marschall , Ira M Hall , Heng Li & Benedict Paten
Nature 617, 312–324 (2023). https://doi.org/10.1038/s41586-023-05896-x
Brief summary: The Human Pangenome Reference Consortium reports a first draft of the human pangenome reference due to replace the existing reference GRCh38 (1, 2). It is an updated, high-quality, graph-based, telomere-to-telomere representation of global genomic diversity including common variants (single-nucleotide variants, structural variants and functional elements).
The human reference genome is the fundamental, open-access resource of modern human genetics and genomics. It was released in its first version more than 20 years ago (1, 2). This reference sequence is needed to provide a system for coordinated reporting and comparing results across genetic and genomic studies. In the updated version, the researchers integrated a large set of reference human genome sequences (known as the Pangenome) that represent the extent of human genetic diversity much better than the GRCh38 genome reference which was composed of a single mosaic sequence representing up to 70% of a single person. In addition, using long-read sequencing technologies (more than 10〉kb long), gaps and errors have been largely removed.
Overall, the new Pangenome ensures that the results of genetic research apply to a wider range of people, and it may help in the identification of so far unsolved, pathogenic genetic variations.
References: 1. Initial sequencing and analysis of the human genome. Lander, E. S. et al. Nature 409, 860–921 (2001). doi.org/10.1038/35057062. 2. The sequence of the human genome. Venter, J. C. et al. Science 291, 1304–1351 (2001). DOI: 10.1126/science.1058040.
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