"Öhman, Susanna" - Selaus tekijän mukaan TUNICRIS-julkaisut

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    • Optical genome mapping unveils hidden structural variants in neurodevelopmental disorders 

      Schrauwen, Isabelle; Rajendran, Yasmin; Acharya, Anushree; Öhman, Susanna; Arvio, Maria; Paetau, Ritva; Siren, Auli; Avela, Kristiina; Granvik, Johanna; Leal, Suzanne M.; Määttä, Tuomo; Kokkonen, Hannaleena; Järvelä, Irma (2024)
      article
      While short-read sequencing currently dominates genetic research and diagnostics, it frequently falls short of capturing certain structural variants (SVs), which are often implicated in the etiology of neurodevelopmental ...