The Musculoskeletal Knowledge Portal: Making Omics Data Useful to the Broader Scientific Community
Year: 2020
Type: review
Abstract: The development of high-throughput genotyping technologies and large biobank collections, complemented with rapid methodological advances in statistical genetics, has enabled hypothesis-free genome-wide association studies (GWAS), which have identified hundreds of genetic variants across many loci associated with musculoskeletal conditions. Similarly, basic scientists have valuable molecular cellular and animal data based on musculoskeletal disease that would be enhanced by being able to determine the human translation of their findings. By integrating these large-scale human genomic musculoskeletal datasets with complementary evidence from model organisms, new and existing genetic loci can be statistically fine-mapped to plausibly causal variants, candidate genes, and biological pathways. Genes and pathways identified using this approach can be further prioritized as drug targets, including side-effect profiling and the potential for new indications. To bring together these big data, and to realize the vision of creating a knowledge portal, the International Federation of Musculoskeletal Research Societies (IFMRS) established a working group to collaborate with scientists from the Broad Institute to create the Musculoskeletal Knowledge Portal (MSK-KP)(http://mskkp.org/). The MSK consolidates omics datasets from humans, cellular experiments, and model organisms into a central repository that can be accessed by researchers. The vision of the MSK-KP is to enable better understanding of the biological mechanisms underlying musculoskeletal disease and apply this knowledge to identify and develop new disease interventions. © 2020 American Society for Bone and Mineral Research (ASBMR).
DOI: 10.1002/jbmr.4147
Institutions: Broad Institute, Beth Israel Deaconess Medical Center, Harvard University, Hebrew SeniorLife, Massachusetts Institute of Technology, The University of Queensland, University of Bristol, MRC Integrative Epidemiology Unit, Erasmus MC, Mayo Clinic, Bar-Ilan University, King's College London, Ehime University, Proteo-Science Center, Ehime University, ETH Zurich, Institute for Biomechanics, Boston Children's Hospital, Indiana University Indianapolis
Language: English
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: bronze
Funders: Orthopaedic Research Society, American Society for Bone and Mineral Research, Broad Institute, European Calcified Tissue Society, Eidgenössische Technische Hochschule Zürich, ETH Zürich Foundation, Australian and New Zealand Bone and Mineral Society, Japan Society for the Promotion of Science, National Institute on Aging, National Human Genome Research Institute, National Institute of Arthritis and Musculoskeletal and Skin Diseases
Awards: OSTEOCYTE REGULATION OF BONE/MUSCLE WITH AGING, Clarification epigenetic regulatory mechanisms underlying ageing-related sarcopenia, Novel Molecular Biomarkers of Bone Microarchitecture, The Association to Function Knowledge Portal: a genomic data resource for translating GWAS associations to biological effects
OpenAlex ID: W3048139920