Population-scale long-read DNA sequencing: peering under the hood of the new evolutionary genomics

Abstract Population-scale long-read DNA sequencing (PLRS) is rapidly reshaping our understanding of genomic variation in humans and non-model species. In this Darwin Review, we first recount the expansion of the PLRS concept and its twin paradigm, the pangenome, over the past 20 years, emphasizing recent results from non-human vertebrates. Using recent PLRS studies in birds as test cases, we probe three aspects of PLRS studies—diploid genome assembly, characterization and annotation of the repea