Article
Perspective of the GEMSTONE Consortium on Current and Future Approaches to Functional Validation for Skeletal Genetic Disease Using Cellular, Molecular and Animal-Modeling Techniques.
Frontiers in endocrinology - 1 Jan 2021
Rauner Martina, Foessl Ines, Formosa Melissa M, Kague Erika, Prijatelj Vid, Lopez Nerea Alonso, Banerjee Bodhisattwa, Bergen Dylan, Busse Björn, Calado Ângelo, Douni Eleni, Gabet Yankel, Giralt Natalia García, Grinberg Daniel, Lovsin Nika M, Solan Xavier Nogues, Ostanek Barbara, Pavlos Nathan J, Rivadeneira Fernando, Soldatovic Ivan, van de Peppel Jeroen, van der Eerden Bram, van Hul Wim, Balcells Susanna, Marc Janja, Reppe Sjur, Søe Kent, Karasik David
Abstract excerpt
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 a challenge. To bridge the gap between genetic association and causality, a systematic functional investigation is...
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