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Method

Resolving missing human polymorphic inversions and other complex variants from ultralong read data

  • Ricardo Moreira-Pinhal
  • Konstantinos Karakostis
  • Illya Yakymenko
  • Oscar Conchillo
  • Maria Díaz-Ros
  • Andrés Santos
  • ... [+1 authors] ...,
  • Miquel Àngel Senar
  • Jaime Martínez-Urtaza
  • Marta Puig
  • Mario Cáceres
  • First Published September 1, 2026
Method

Determining the impact of uncharacterized inversions in the human genome by droplet digital PCR

  • Marta Puig
  • Jon Lerga-Jaso
  • Carla Giner-Delgado
  • Sarai Pacheco
  • David Izquierdo
  • Alejandra Delprat
  • ... [+1 authors] ...,
  • Magdalena Gayà-Vidal
  • Jack F. Regan
  • George Karlin-Neumann
  • Mario Cáceres
  • First Published May 18, 2020
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