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A machine-compiled database of genome-wide association studies.

ABSTRACT: Tens of thousands of genotype-phenotype associations have been discovered to date, yet not all of them are easily accessible to scientists. Here, we describe GWASkb, a machine-compiled knowledge base of genetic associations collected from the scientific literature using automated information extraction algorithms. Our information extraction system helps curators by automatically collecting over 6,000 associations from open-access publications with an estimated recall of 60-80% and with an estimated precision of 78-94% (measured relative to existing manually curated knowledge bases). This system represents a fully automated GWAS curation effort and is made possible by a paradigm for constructing machine learning systems called data programming. Our work represents a step towards making the curation of scientific literature more efficient using automated systems.

SUBMITTER: Kuleshov V

PROVIDER: S-EPMC6659642 | biostudies-literature | 2019 Jul

REPOSITORIES: biostudies-literature

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A machine-compiled database of genome-wide association studies.

Kuleshov Volodymyr V Ding Jialin J Vo Christopher C Hancock Braden B Ratner Alexander A Li Yang Y Ré Christopher C Batzoglou Serafim S Snyder Michael M

Nature communications 20190726 1

Tens of thousands of genotype-phenotype associations have been discovered to date, yet not all of them are easily accessible to scientists. Here, we describe GWASkb, a machine-compiled knowledge base of genetic associations collected from the scientific literature using automated information extraction algorithms. Our information extraction system helps curators by automatically collecting over 6,000 associations from open-access publications with an estimated recall of 60-80% and with an estima ...[more]

PMID: 31350405

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Project description:UNLABELLED: BACKGROUND: The amount of data generated from genome-wide association studies (GWAS) has grown rapidly, but considerations for GWAS phenotype data reuse and interchange have not kept pace. This impacts on the work of GWAS Central - a free and open access resource for the advanced querying and comparison of summary-level genetic association data. The benefits of employing ontologies for standardising and structuring data are widely accepted. The complex spectrum of observed human phenotypes (and traits), and the requirement for cross-species phenotype comparisons, calls for reflection on the most appropriate solution for the organisation of human phenotype data. The Semantic Web provides standards for the possibility of further integration of GWAS data and the ability to contribute to the web of Linked Data. RESULTS: A pragmatic consideration when applying phenotype ontologies to GWAS data is the ability to retrieve all data, at the most granular level possible, from querying a single ontology graph. We found the Medical Subject Headings (MeSH) terminology suitable for describing all traits (diseases and medical signs and symptoms) at various levels of granularity and the Human Phenotype Ontology (HPO) most suitable for describing phenotypic abnormalities (medical signs and symptoms) at the most granular level. Diseases within MeSH are mapped to HPO to infer the phenotypic abnormalities associated with diseases. Building on the rich semantic phenotype annotation layer, we are able to make cross-species phenotype comparisons and publish a core subset of GWAS data as RDF nanopublications. CONCLUSIONS: We present a methodology for applying phenotype annotations to a comprehensive genome-wide association dataset and for ensuring compatibility with the Semantic Web. The annotations are used to assist with cross-species genotype and phenotype comparisons. However, further processing and deconstructions of terms may be required to facilitate automatic phenotype comparisons. The provision of GWAS nanopublications enables a new dimension for exploring GWAS data, by way of intrinsic links to related data resources within the Linked Data web. The value of such annotation and integration will grow as more biomedical resources adopt the standards of the Semantic Web.

Dataset Information

A machine-compiled database of genome-wide association studies.

Publications

A machine-compiled database of genome-wide association studies.

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