ArticlePacific Symposium on Biocomputing. Pacific Symposium on Biocomputing2023
Development and application of a computable genotype model in the GA4GH Variation Representation Specification.
Article in Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
4 citing papers in PubMed.
- Aggregation of gene regulatory information and knowledge on FAIR principles enables discovery of pathogenic gene regulatory variants.Bioinformatics (Oxford, England) · 2026Article
- HGVS Nomenclature 2024: improvements to community engagement, usability, and computability.Genome medicine · 2024Article
- A corpus of GA4GH Phenopackets: case-level phenotyping for genomic diagnostics and discovery.medRxiv : the preprint server for health sciences · 2024Article
- Enabling the clinical application of artificial intelligence in genomics: a perspective of the AMIA Genomics and Translational Bioinformatics Workgroup.Journal of the American Medical Informatics Association : JAMIA · 2024Article
Corrections and comments
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Authors and funding
16 authors.
Funding
Abstract
As the diversity of genomic variation data increases with our growing understanding of the role of variation in health and disease, it is critical to develop standards for precise inter-system exchange of these data for research and clinical applications. The Global Alliance for Genomics and Health (GA4GH) Variation Representation Specification (VRS) meets this need through a technical terminology and information model for disambiguating and concisely representing variation concepts. Here we discuss the recent Genotype model in VRS, which may be used to represent the allelic composition of a genetic locus. We demonstrate the use of the Genotype model and the constituent Haplotype model for the precise and interoperable representation of pharmacogenomic diplotypes, HGVS variants, and VCF records using VRS and discuss how this can be leveraged to enable interoperable exchange and search operations between assayed variation and genomic knowledgebases.
Indexed as
Identifiers
36540993PMC9782714What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.