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Method

OMKar automates genome karyotyping using optical maps to identify constitutional abnormalities

  • Siavash Raeisi Dehkordi
  • Zhaoyang Jia
  • Joey Estabrook
  • Jen Hauenstein
  • Neil Miller
  • Naz Güleray-Lafci Jürgen Neesen Alex Hastie
  • ... [+3 authors] ...,
  • Alka Chaubey
  • Andy Wing Chun Pang
  • Paul Dremsek
  • Vineet Bafna
  • First Published November 14, 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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