KaryoScope: rapid, alignment-free sequence annotation for the pangenome era (opens in new tab)

The pangenome era is producing long-read sequencing data and complete genome assemblies at a pace that current annotation methods cannot match. Existing tools were each built for a single feature class (repeats, centromeric satellites, or genes) and falter precisely where the genome is most variable and harbours clinically important variation: the centromeres, subtelomeres, and acrocentric short arms. Here we present KaryoScope, an alignment-free method to annotate an assembly at base resolut...