The Musculoskeletal Knowledge Portal: Making Omics Data Useful to the Broader Scientific Community.
DISEASES AND DISORDERS OF/RELATED TO BONE
EPIGENETICS
GENETIC RESEARCH
OSTEOARTHRITIS
OSTEOPOROSIS
Journal
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research
ISSN: 1523-4681
Titre abrégé: J Bone Miner Res
Pays: United States
ID NLM: 8610640
Informations de publication
Date de publication:
09 2020
09 2020
Historique:
received:
02
07
2020
revised:
30
07
2020
accepted:
30
07
2020
pubmed:
11
8
2020
medline:
7
7
2021
entrez:
11
8
2020
Statut:
ppublish
Résumé
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).
Identifiants
pubmed: 32777102
doi: 10.1002/jbmr.4147
pmc: PMC8114232
mid: NIHMS1690387
doi:
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
1626-1633Subventions
Organisme : NIA NIH HHS
ID : P01 AG039355
Pays : United States
Organisme : NIAMS NIH HHS
ID : R01 AR041398
Pays : United States
Commentaires et corrections
Type : CommentIn
Informations de copyright
© 2020 American Society for Bone and Mineral Research (ASBMR).
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