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

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

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

Autor(en):

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

Erschienen in:

European Journal of Human Genetics (2024), Bd. 32, H. 2, S. 182-189

Verlagsangabe:

London : Springernature

Sprache:

Englisch

Referenz zum Volltext:

http://dx.doi.org/10.1038/s41431-023-01486-7

ISSN:

1018-4813