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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; Köhler, Sebastian; Robinson, Peter; Graessner, Holm; Beltran, Sergi; Lucano, Caterina; Hanauer, Marc; Rath, Ana.
Afiliación
  • Lagorce D; INSERM, US14 - Orphanet, Plateforme Maladies Rares, 75014, Paris, France. david.lagorce@inserm.fr.
  • Lebreton E; INSERM, US14 - Orphanet, Plateforme Maladies Rares, 75014, Paris, France.
  • Matalonga L; CNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Baldiri Reixac 4, Barcelona, 08028, Spain.
  • Hongnat O; INSERM, US14 - Orphanet, Plateforme Maladies Rares, 75014, Paris, France.
  • Chahdil M; INSERM, US14 - Orphanet, Plateforme Maladies Rares, 75014, Paris, France.
  • Piscia D; CNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Baldiri Reixac 4, Barcelona, 08028, Spain.
  • Paramonov I; CNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Baldiri Reixac 4, Barcelona, 08028, Spain.
  • Ellwanger K; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
  • Köhler S; Centre for Rare Diseases, University of Tübingen, Tübingen, Germany.
  • Robinson P; Ada Health GmbH, Berlin, Germany.
  • Graessner H; The Jackson Laboratory for Genomic Medicine, Farmington, CT, 06032, USA.
  • Beltran S; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
  • Lucano C; Centre for Rare Diseases, University of Tübingen, Tübingen, Germany.
  • Hanauer M; CNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Baldiri Reixac 4, Barcelona, 08028, Spain.
  • Rath A; INSERM, US14 - Orphanet, Plateforme Maladies Rares, 75014, Paris, France.
Eur J Hum Genet ; 32(2): 182-189, 2024 Feb.
Article en En | MEDLINE | ID: mdl-37926714
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Genómica / Enfermedades Raras Idioma: En Revista: Eur J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2024 Tipo del documento: Article
Texto completo
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Genómica / Enfermedades Raras Idioma: En Revista: Eur J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2024 Tipo del documento: Article