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Standards for Clinical Genomics Knowledge Representation: A Tiered Approach

In the evolving field of clinical genomics, a structured approach to knowledge representation is essential. This work by Dr. Peter L. Elkin outlines a tiered model for interpreting and utilizing genomic data, focusing on phenotype, haplotype, genotype, and various molecular data types—such as proteomic and metabolomic. It emphasizes the significance of creating extensible and interoperable standards for clinical applications. By aligning clinical research, personalized medicine, and drug discovery with a consistent domain model, we advance the foundation for effective medical education and the integration of genomics into clinical practice.

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Standards for Clinical Genomics Knowledge Representation: A Tiered Approach

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  1. Clinical Genomics:Standards for Knowledge Representation By Peter L. Elkin, MD, FACP Professor of Medicine Mayo Clinic, College of Medicine

  2. Core Classes of Knowledge Phenotype Haplotype Genotype Proteome-type Metabolome-type

  3. Aggregations of Classes Sequence Data Microarray Data Core Proteomic Data Metabolomic Data Pharmacogenomic Data

  4. Clinical Genomics Applications Clinical Research Personalized Medicine Aggregations Basic Research Core Medical Education Novel Drug Discovery

  5. A Tiered approach to Knowledge Representation for Clinical Genomics Data is Sensible The approach will lead to a consistent Domain Model for Clinical Genomics Standards built on such a model will be extensible, reusable and interoperable HL7 Clinical Genomics SIG => Standards that Matter Conclusions

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