Ontology-based expansion of virtual gene panels to improve diagnostic efficiency for rare genetic diseases

Jae-Moon Shin, Toyofumi Fujiwara, Atsuko Yamaguchi. Ontology-based expansion of virtual gene panels to improve diagnostic efficiency for rare genetic diseases. In Atsuko Yamaguchi, Andrea Splendiani, M. Scott Marshall, Chris Baker, Jerven T. Bolleman, Albert Burger, Leyla Jael Castro, Ole Eigenbrod, Sabine Ă–sterle, Martin Romacker, Andra Waagmeester, editors, 14th International Conference on Semantic Web Applications and Tools for Health Care and Life Sciences (SWAT4HCLS 2023), Basel, Switzerland, February 13-16, 2023. Volume 3415 of CEUR Workshop Proceedings, pages 87-91, CEUR-WS.org, 2023. [doi]

Abstract

Abstract is missing.