Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA.
Pac Symp Biocomput. 2023;28:383-394.
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.
随着我们对变异在健康和疾病中的作用的理解不断加深，基因组变异数据的多样性也在不断增加，因此，为了研究和临床应用，开发用于这些数据在系统间精确交换的标准至关重要。全球基因组学与健康联盟（GA4GH）的变异表示规范（VRS）通过用于区分和简洁表示变异概念的技术术语和信息模型满足了这一需求。在这里，我们将讨论 VRS 中的最近的基因型模型，该模型可用于表示遗传基因座的等位基因组成。我们演示了如何使用基因型模型和组成的单倍型模型，以使用 VRS 精确且可互操作地表示药物基因组双等位基因、HGVS 变体和 VCF 记录，并讨论如何利用这一点来实现检测到的变异和基因组知识库之间的可互操作交换和搜索操作。
