Phenotype-driven filtering in whole exome sequencing: Results of Human Phenotype Ontology usage to create patient-specific virtual gene panels in a single center

Kocabey M., Aktan Karaca M. B., Gürsoy S., Ülgenalp A., Çağlayan A. O.

European Human Genetics Conference 2025, Milan, Italy, 24 - 27 May 2025, pp.928, (Summary Text)

  • Publication Type: Conference Paper / Summary Text
  • Doi Number: 10.1038/s41431-025-01935-5
  • City: Milan
  • Country: Italy
  • Page Numbers: pp.928
  • Dokuz Eylül University Affiliated: Yes