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Testing for association with rare variants in the coding and non-coding genome: RAVA-FIRST, a new approach based on CADD deleteriousness score.
Bocher, Ozvan; Ludwig, Thomas E; Oglobinsky, Marie-Sophie; Marenne, Gaëlle; Deleuze, Jean-François; Suryakant, Suryakant; Odeberg, Jacob; Morange, Pierre-Emmanuel; Trégouët, David-Alexandre; Perdry, Hervé; Génin, Emmanuelle.
Afiliação
  • Bocher O; Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest, France.
  • Ludwig TE; Institute of Translational Genomics, Helmholtz Zentrum München, Munich, Germany.
  • Oglobinsky MS; Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest, France.
  • Marenne G; CHU Brest, Brest, France.
  • Deleuze JF; Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest, France.
  • Suryakant S; Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest, France.
  • Odeberg J; Centre National de Recherche en Génomique Humaine CNRGH, Institut de Biologie François Jacob, Université Paris Saclay, CEA, Evry, France.
  • Morange PE; University of Bordeaux, Inserm, Bordeaux Population Health Research Center, team ELEANOR, UMR 1219, Bordeaux, France.
  • Trégouët DA; Science for Life Laboratory, Department of Protein Science, CBH, KTH Royal Institute of Technology, Stockholm, Sweden.
  • Perdry H; Department of Clinical Medicine, Faculty of Health Science, The Arctic University of Tromsö, Tromsö, Norway.
  • Génin E; Aix Marseille Univ, INSERM, INRAE, C2VN, Marseille, France.
PLoS Genet ; 18(9): e1009923, 2022 09.
Article em En | MEDLINE | ID: mdl-36112662
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Variação Genética / Genômica Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Variação Genética / Genômica Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article