A 39 kb structural variant causing Lynch Syndrome detected by optical genome mapping and nanopore sequencing.
Bjørnstad PM, Aaløkken R, Åsheim J, Sundaram AYM, Felde CN, Østby GH, Dalland M, Sjursen W, Carrizosa C, Vigeland MD, Sorte HS, Sheng Y, Ariansen SL, Grindedal EM, Gilfillan GD.
Bjørnstad PM, et al. Among authors: sundaram aym.
Eur J Hum Genet. 2023 Nov 29. doi: 10.1038/s41431-023-01494-7. Online ahead of print.
Eur J Hum Genet. 2023.
PMID: 38030917