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Many bioinformatics pipelines crucially depend on a reference genome: an assembly that stands in for the genome of a species. However, due to genomic variation, there is a limit to how well a single assembly can represent an entire species. This introduces a pervasive reference bias where analyses become less accurate whenever a sample’s genome differs from the reference. The field of pangenomics has emerged to combat this bias, mostly by using sequence graphs that incorporate genomic variation as an alternative to conventional reference genomes. This talk will survey some of the recent developments in human pangenomics, including the Human Pangenome Reference Consortium’s creation of high-quality pangenome data resources. It will also discuss some of the applications of pangenomes, with an emphasis on the presenter’s research into pantranscriptomics: methods that incorporate pangenomic techniques into transcriptomic analyses.
