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eLibrary > PD ISO/TS 20428:2024 Genomics Informatics. Data elements and their metadata for describing structured clinical genomic sequence information in electronic health records >

PD ISO/TS 20428:2024 Genomics Informatics. Data elements and their metadata for describing structured clinical genomic sequence information in electronic health records, 2024

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PD ISO/TS 20428:2024 Genomics Informatics. Data elements and their metadata for describing structured clinical genomic sequence information in electronic health records, 2024

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Foreword
Introduction
1 Scope
2 Normative references
3 Terms and definitions
4 Abbreviated terms
5 Use case scenario
6 Composition of a clinical sequencing report [Go to Page]
6.1 General
6.2 Overall interpretation in summary
6.3 Detailed contents
7 Fields and their nomenclature of required data [Go to Page]
7.1 General
7.2 Clinical sequencing orders [Go to Page]
7.2.1 General
7.2.2 Clinical sequencing order code
7.2.3 Date and time
7.2.4 Specimen information
7.3 Information on subject of care [Go to Page]
7.3.1 General
7.3.2 Subject of care identifiers
7.3.3 Subject of care name
7.3.4 Subject of care birth date
7.3.5 Subject of care sex
7.3.6 Subject of care population
7.4 Information on legally authorized person ordering clinical sequencing
7.5 Performing laboratory [Go to Page]
7.5.1 General
7.5.2 Basic information on performing laboratory
7.5.3 Information on report generator
7.5.4 Information of legally confirmed person on sequencing report
7.6 Associated diseases and phenotypes
7.7 Biomaterial information [Go to Page]
7.7.1 General
7.7.2 Types of sample
7.7.3 Genomic source class in biomaterial
7.7.4 Conditions of specimen that can limit adequacy of testing
7.8 Genetic variations [Go to Page]
7.8.1 General
7.8.2 Gene symbols and names
7.8.3 Sequence variation information
7.9 Classification of variants [Go to Page]
7.9.1 General
7.9.2 Classification of variants based on the pathogeny
7.9.3 Classification of variants based on clinical relevance
7.10 Recommended treatment [Go to Page]
7.10.1 General
7.10.2 Classification of variants based on clinical relevance
7.10.3 Clinical trial information
7.10.4 Known protocols related to a variant
7.10.5 Other recommendation
7.11 Addendum
8 Fields and their nomenclature of optional data [Go to Page]
8.1 General
8.2 Subject of care population
8.3 Medical history
8.4 Family history/Pedigree information
8.5 Reference genome version
8.6 Populational genomic information
8.7 Karyotopic sex
8.8 Genetic variation
8.9 Classification of variants [Go to Page]
8.9.1 General
8.9.2 Classification of variants as secondary finding
8.10 Detailed sequencing information [Go to Page]
8.10.1 General
8.10.2 Clinical sequencing date
8.10.3 Quality control metrics
8.10.4 Base calling information
8.10.5 Sequencing platform information
8.10.6 Analysis platform information
8.11 References
Annex A (informative) Example structure of clinical sequencing report
Bibliography [Go to Page]

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PD ISO/TS 20428:2024 Genomics Informatics. Data elements and their metadata for describing structured clinical genomic sequence information in electronic health records, 2024

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