Perspective of the GEMSTONE Consortium on Current and Future Approaches to Functional Validation for Skeletal Genetic Disease Using Cellular, Molecular and Animal-Modeling Techniques

Perspective of the GEMSTONE Consortium on Current and Future Approaches to Functional Validation for Skeletal Genetic Disease Using Cellular, Molecular and Animal-Modeling Techniques

The availability of large human datasets for genome-wide association studies (GWAS) and the advancement of sequencing technologies have boosted the identification of genetic variants in complex and rare diseases in the skeletal field. Yet, interpreting results from human association studies remains...

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Autores principales: Martina Rauner, Ines Foessl, Melissa M. Formosa, Erika Kague, Vid Prijatelj, Nerea Alonso Lopez, Bodhisattwa Banerjee, Dylan Bergen, Björn Busse, Ângelo Calado, Eleni Douni, Yankel Gabet, Natalia García Giralt, Daniel Grinberg, Nika M. Lovsin, Xavier Nogues Solan, Barbara Ostanek, Nathan J. Pavlos, Fernando Rivadeneira, Ivan Soldatovic, Jeroen van de Peppel, Bram van der Eerden, Wim van Hul, Susanna Balcells, Janja Marc, Sjur Reppe, Kent Søe, David Karasik
Formato: article
Lenguaje:EN
Publicado: Frontiers Media S.A. 2021
Materias:
genome-wide association study
musculoskeletal disease
gene regulation
animal models
data integration analysis
Diseases of the endocrine glands. Clinical endocrinology
RC648-665
Acceso en línea:https://doaj.org/article/ab5cda7f24e346b4a98b3e682c545407
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https://doaj.org/article/ab5cda7f24e346b4a98b3e682c545407

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