NEW YORK – An international team led by investigators in the US and Germany has demonstrated the extensive structural variation that can be found in haplotype-resolved human genomes assembled with the help of long-read sequence data.
"This improved understanding of the genome allows us to identify new hotspots of genetic instability that will be important for predicting where and why disease occurs — especially rare variants," co-senior and co-corresponding author Evan Eichler, a genome scientist at the University of Washington School of Medicine, said in an email.