https://www.sciencedaily.com/releases/2021/02/210225143855.htm

Building on this, scientists have carried out many sequencing projects over the last 20 years to identify and catalog genetic differences between an individual and the reference genome. Those differences usually focused on small single base changes and missed larger genetic alterations. Current technologies now are beginning to detect and characterize larger differences -- called structural variants -- such as insertions of several hundred letters. Structural variants are more likely than smaller genetic differences to interfere with gene function.

An international research team has now published an article in Science announcing a new, considerably more comprehensive reference dataset obtained using a combination of advanced sequencing and mapping technologies. The new reference dataset reflects 64 assembled human genomes, representing 25 different human populations from across the globe. Importantly, each of the genomes was assembled without guidance from the first human genome and as a result better captures genetic differences from different human populations. The study was led by scientists from the European Molecular Biology Laboratory Heidelberg (EMBL), the Heinrich Heine University Düsseldorf (HHU), The Jackson Laboratory for Genomic Medicine in Farmington, Conn. (JAX), and the University of Washington in Seattle (UW).