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: vigeland md.
Eur J Hum Genet. 2024 May;32(5):513-520. doi: 10.1038/s41431-023-01494-7. Epub 2023 Nov 29.
Eur J Hum Genet. 2024.
PMID: 38030917
Free PMC article.