Google AI Blog shares how an international collaboration of 119 scientists across 60 institutions, known as the Human Pangenome Research Consortium, has completed the first human pangenome reference. This reference combines 47 individual genome reference sequences, better representing the genomic diversity of global populations. The pangenome approach addresses the challenges of incorporating known genetic variations and the vast diversity of human ancestries, which a single reference genome cannot represent. Googles deep learning technologies and past advances in genomics were used to contribute to building accurate pangenome sequences and using them for genome analysis. Graph data structures were used, allowing multiple sequences for many people to be represented at the same time, creating a more accurate representation of unique sequences in an individuals DNA. This information-rich resource is useful for geneticists, researchers, and clinicians around the world, making significant strides towards improving equity in genomics.
