A 39 kb structural variant causing Lynch Syndrome detected by optical genome mapping and nanopore sequencing

European Journal of Human Genetics, Published online: 29 November 2023; doi:10.1038/s41431-023-01494-7A 39 kb structural variant causing Lynch Syndrome detected by optical genome mapping and nanopore sequencing

Source: European Journal of Human Genetics - November 29, 2023 Category: Genetics & Stem Cells Authors: P ål Marius Bjørnstad Ragnhild Aal økken June Åsheim Arvind Y. M. Sundaram Caroline N. Felde G. Henriette Østby Marianne Dalland Wenche Sjursen Christian Carrizosa Magnus D. Vigeland Hanne S. Sorte Ying Sheng Sarah L. Ariansen Eli Marie Grindedal Gre Source Type: research