Furthering our understanding of human genetic variation: the human pangenome reference project second release

Abstract

Human genomics has relied on a single reference genome for the last twenty years. This reference genome is a cornerstone of much of what we do in genomics but it can not, by definition, represent the variation present in the human population, and as a reference introduces a pervasive bias into genomic analyses. I will survey our recent efforts, through the Human Pangenome Reference Consortium, to build and use a reference pangenome—a collection of extremely high-quality reference genomes related together by a consensus genome alignment that we intend as a replacement for the reference genome.

Speaker Bio

Dr. Benedict Paten is a professor in the department of Biomolecular Engineering at the University of California, Santa Cruz. He is also associate director of the UC Santa Cruz Genomics Institute. He received his Ph.D. in computational biology from the University of Cambridge and the European Molecular Biology Laboratory. Dr. Paten’s work is broadly focused on the growing field of computational genomics. He is involved in a number of large-scale efforts, currently he is a PI of the Human Cell Atlas Data Platform, the NHGRI AnVIL, HuBMAP, GENCODE, and the Human Pangenome Reference Consortium. Through these efforts he is helping to develop methods to further our ability to assay and understand genomes.