Perspective of the GEMSTONE consortium on current and future approaches to functional validation for skeletal genetic disease using cellular, molecular and animal …
M Rauner, I Foessl, MM Formosa, E Kague… - Frontiers in …, 2021 - frontiersin.org
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 necessary. Multiple
unknowns exist for putative causal genes, including cellular localization of the molecular …
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 necessary. Multiple
unknowns exist for putative causal genes, including cellular localization of the molecular …
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