| ARCHETYPE ID | openEHR-EHR-CLUSTER.general_genomics_results.v0 |
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| Concept | General genomics results |
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| Description | Genomics sequencing result parameters that are calculated once per sequencing run. |
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| Use | Use to report general sequencing result parameter determined for the genome by a sequencing test.
This archetype is meant to be used in the "Test result" SLOT of the Laboratory test result observation archetype. |
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| Misuse | Not to be used to report genetic variants, but only general parameters that are determined once per sequencing run. |
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| Purpose | To record general sequencing result parameter of a performed sequencing test. |
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| References | |
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| Authors | Author name: Aurelie Tomczak
Organisation: Institute of Pathology, University Hospital Heidelberg
Email: au.tomczak@yahoo.com
Date originally authored: 2023-06-12
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| Other Details Language | Author name: Aurelie Tomczak
Organisation: Institute of Pathology, University Hospital Heidelberg
Email: au.tomczak@yahoo.com
Date originally authored: 2023-06-12
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| Other Details (Language Independent) | - Licence: This work is licensed under the Creative Commons Attribution-ShareAlike 4.0 International License. To view a copy of this license, visit http://creativecommons.org/licenses/by-sa/4.0/.
- Custodian Organisation: HiGHmed
- Original Namespace: org.highmed
- Original Publisher: HiGHmed
- Custodian Namespace: org.highmed
- MD5-CAM-1.0.1: ED4B600784189F070211F7B91E093A58
- Build Uid: e7bb8aa0-0957-4c37-8abf-b45a91537d43
- Revision: 0.0.1-alpha
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| Keywords | Tumor, cell, content, BRCAness, Microsatellite, instability, (MSI), Tumor, Mutational, Burden, (TMB), per, Mb, Sequencing, result, parameter, Whole, genome, sequencing, Targeted, sequencing, Homologous, recombination, deficiency, (HRD), score |
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| Lifecycle | in_development |
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| UID | 2b744eb3-b3c8-43b3-9da3-e86649991dd3 |
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| Language used | en |
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| Citeable Identifier | 1246.145.2029 |
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| Revision Number | 0.0.1-alpha |
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| items | |
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| Tumour cell content (pathologic/histologic) | Tumour cell content (pathologic/histologic): Tumour cell content determinded by pathologic/histologic methods.
Choice of:
 Quantity
Property: Qualified real
Units: % Proportion
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| Tumour cell content (bioinformatic) | Tumour cell content (bioinformatic): Tumour cell content determinded by bioinformatic methods.
Choice of:
- Proportion
- Quantity
Property: Qualified real
Units: %
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| Microsatellite instability (MSI) | Microsatellite instability (MSI): Microsatellite instability (MSI).
min: >=0; max: <=2
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| MSI classification | MSI classification: Classification of the Microsatellite instability (MSI).
e.g. MSS, MSI low or MSI high.
Choice of:
 Coded Text
 Text
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| Tumor Mutational Burden (TMB) per Mb | Tumor Mutational Burden (TMB) per Mb: Tumor Mutational Burden (TMB) per Megabase. |
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| TMB classification | TMB classification: Classification of Tumor Mutational Burden (TMB) per Megabase.
e.g. low, intermediate or high.
Choice of:
- Text
- Coded Text
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| BRCAness | BRCAness: BRCAness is defined as a phenotypic copy of germline BRCA mutations.
Choice of:
 Count
min: >=0; max: <=1
- Quantity
Property: Qualified real
Units: %
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| Homologous recombination deficiency (HRD) score | Homologous recombination deficiency (HRD) score: The Homologous recombination deficiency (HRD) score is the sum of loss-of-heterozygosity (LOH), telomeric allelic imbalance (TAI), and large-scale state transitions (LST). |
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| HRD classification | HRD classification: Classification of the Homologous recombination deficiency (HRD) score.
e.g. low, intermediate or high. |
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| Further results | Further results: Cluster to include additional result parameters not already defined above. |
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| Name | Name: Parameter name.
Choice of:
- Text
- Coded Text
 Identifier
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| Value | Value: Parameter value. |
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| Value classification | Value classification: Classification of value.
e.g. low, intermediate or high.
Choice of:
- Coded Text
- Text
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| Qualitative interpretation | Qualitative interpretation: Qualitative parameter interpretation, if applicable. |
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| Other contributors | |
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| Translators | German: Aurelie Tomczak, au.tomczak@yahoo.com, Institute of Pathology, University Hospital Heidelberg
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