Beyter D, Ingimundardottir H, Oddsson A, Eggertsson HP, Bjornsson E, Jonsson H, Atlason BA, Kristmundsdottir S, Mehringer S, Hardarson MT, Gudjonsson SA, Magnusdottir DN, Jonasdottir A, Jonasdottir A, Kristjansson RP, Sverrisson ST, Holley G, Palsson G, Stefansson OA, Eyjolfsson G, Olafsson I, Sigurdardottir O, Torfason B, Masson G, Helgason A, Thorsteinsdottir U, Holm H, Gudbjartsson DF, Sulem P, Magnusson OT, Halldorsson BV, Stefansson K.

Nat Genet. 2021 Jun;53(6):779-786. doi:10.1038/s41588-021-00865-4

Long-read sequencing of 3,622 Icelanders provides insight into the role of structural variants in human diseases and other traits.

”We generated [long read sequencing] data from 3,622 Icelanders and identified a median of 22,636 SVs per individual (a median of 13,353 insertions and 9,474 deletions).” “We did not attempt to discover translocations and inversions.“ “We found more SVs, particularly TR SVs, near telomeres, a reflection of the sequence content of telomeres and the high mutation rate of TRs” “The ZnF domain of PRDM9 is the DNA-binding domain, and the SV alleles thus introduce alterations in the DNA-binding motif of PRDM9 and consequently change the locations of meiotic recombination57,58. All the different ZnF-motif lengths showed a strong association with the location of crossovers as measured by the fraction of crossovers that occur in recombination hotspots.”