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SwissGenVar: A Platform for Clinical-Grade Interpretation of Genetic Variants to Foster Personalized Healthcare in Switzerland

  • Dennis Kraemer,
  • Dillenn Terumalai,
  • Maria Livia Famiglietti,
  • Isabel Filges and ,
  • Pascal Joset,
  • Samuel Koller,
  • Fabienne Maurer,
  • Stéphanie Meier,
  • Thierry Nouspikel and
  • Anita Rauch
  • + 13 authors+ 8 authors
J. Pers. Med.2024, 14(6), 648;https://doi.org/10.3390/jpm14060648

17 June 2024

Large-scale next-generation sequencing (NGS) germline testing is technically feasible today, but variant interpretation represents a major bottleneck in analysis workflows. This includes extensive variant prioritization, annotation, and time-consumin...

(This article belongs to the Topic Public Health and Healthcare in the Context of Big Data)
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