The Musculoskeletal Knowledge Portal: Making Omics Data Useful to the Broader Scientific Community.

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.

SUBMITTER: Kiel DP 

PROVIDER: S-EPMC8114232 | biostudies-literature | 2020 Sep

REPOSITORIES: biostudies-literature