Pangenome Analysis Strategy Provides Look at Conserved, Variable Genome Regions

Stanford University researchers reporting in Cell Reports Methods describe a strategy for comparing a human pangenome reference sequence with individual reference genomes. With this indexing approach, the team tracked down a set of universally conserved sequences dubbed "pan-conserved segment tags" (PSTs) found in the HPRC pangenome assembly, the GRCh38 human genome reference, and a haploid genome assembly from the Telomere-to-Telomere Consortium. These ultra-conserved PSTs were separated by one another by stretches of conserved or variable sequences, the authors note, providing insights into informative polymorphic intervals between PSTs, including sequences within the pangenome that varied by population or ethnicity. "Determining the conserved gene features among individual with different genetic backgrounds provides many important features of the pangenome," they write. "By examining conserved sequences, certain properties of [structural variation] become apparent including what regions of the genome are most subject to polymorphic rearrangements."