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Clinical Genomics: Standards for Knowledge Representation

Clinical Genomics: Standards for Knowledge Representation. By Peter L. Elkin, MD, FACP Professor of Medicine Mayo Clinic, College of Medicine. Core Classes of Knowledge. Phenotype. Haplotype. Genotype. Proteome-type. Metabolome-type. Aggregations of Classes. Sequence Data.

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Clinical Genomics: Standards for Knowledge Representation

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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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