Optical genome mapping enables accurate testing of large repeat expansions.
van der Sanden B, Neveling K, Shukor S, Gallagher MD, Lee J, Burke SL, Pennings M, van Beek R, Oorsprong M, Kater-Baats E, Kamping E, Tieleman AA, Voermans NC, Scheffer IE, Gecz J, Corbett MA, Vissers LELM, Pang AWC, Hastie A, Kamsteeg EJ, Hoischen A.
van der Sanden B, et al.
Genome Res. 2025 Apr 14;35(4):810-823. doi: 10.1101/gr.279491.124.
Genome Res. 2025.
PMID: 40113266
Free PMC article.
This study evaluated optical genome mapping (OGM) as an efficient, accurate approach for measuring STR lengths and assessing somatic stability in 85 samples with known pathogenic repeat expansions in DMPK, CNBP, and RFC1, causing myotonic dystrophy types 1 and 2 and cerebe …
This study evaluated optical genome mapping (OGM) as an efficient, accurate approach for measuring STR lengths and assessing somatic stabili …