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Research

Optical genome mapping enables accurate testing of large repeat expansions

  • Bart van der Sanden
  • Kornelia Neveling
  • Syukri Shukor
  • Michael D. Gallagher
  • Joyce Lee
  • Stephanie L. Burke Maartje Pennings Ronald van Beek Michiel Oorsprong Ellen Kater-Baats Eveline Kamping Alide A. Tieleman Nicol C. Voermans Ingrid E. Scheffer Jozef Gecz Mark A. Corbett Lisenka E.L.M. Vissers
  • ... [+12 authors] ...,
  • Andy Wing Chun Pang
  • Alex Hastie
  • Erik-Jan Kamsteeg
  • Alexander Hoischen
  • First Published March 20, 2025
Research

Optical genome mapping identifies rare structural variants in neural tube defects

  • Nikhil S. Sahajpal
  • Jane Dean
  • Benjamin Hilton
  • Timothy Fee
  • Cindy Skinner
  • Alex Hastie
  • ... [+1 authors] ...,
  • Barbara R. DuPont
  • Alka Chaubey
  • Michael J. Friez
  • Roger E. Stevenson
  • First Published March 19, 2025
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