Phenotypic similarity-based approach for variant prioritization for unsolved rare disease: a preliminary methodological report

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Phenotypic similarity-based approach for variant prioritization for unsolved rare disease: a preliminary methodological report

Author: Lagorce, David; Lebreton, Emeline; Matalonga, Leslie; Hongnat, Oscar; Chahdil, Maroua; Piscia, Davide; Paramonov, Ida; Ellwanger, Kornelia; Koehler, Sebastian; Robinson, Peter; Graessner, Holm; Beltran, Sergi; Lucano, Caterina; Hanauer, Marc; Rath, Ana
Tübinger Autor(en):
Ellwanger, Kornelia
Graessner, Holm
Published in: European Journal of Human Genetics (2024), Bd. 32, H. 2, S. 182-189
Verlagsangabe: London : Springernature
Language: English
Full text: http://dx.doi.org/10.1038/s41431-023-01486-7
ISSN: 1018-4813
DDC Classifikation: 570 - Life sciences; biology
610 - Medicine and health
Dokumentart: Article
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