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

      Bjørnstad, Pål Marius; Aaløkken, Ragnhild Margrethe; Åsheim, June; Sundaram, Arvind; Nangota Felde, Caroline; Østby, Gina Henriette; Dalland, Marianne; Sjursen, Wenche; Carrizosa, Christian; Vigeland, Magnus Dehli; Sorte, Hanne Sørmo; Sheng, Ying; Ariansen, Sarah Louise; Grindedal, Eli Marie; Gilfillan, Gregor (Peer reviewed; Journal article, 2023)
      Lynch Syndrome (LS) is a hereditary cancer syndrome caused by pathogenic germline variants in one of the four mismatch repair (MMR) genes MLH1, MSH2, MSH6 and PMS2. It is characterized by a significantly increased risk of ...