Clinical Genomics Resource Incubator
0.1.0-ci-build - CI Build International flag

Clinical Genomics Resource Incubator, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 0.1.0-ci-build built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/cg-incubator/ and changes regularly. See the Directory of published versions

Table of Contents

Page standards status: Informative
.. 0 Table of Contents
... 1 IG Home
... 2 Terminology Considerations
... 3 Change Log
... 4 Artifacts Summary
.... 4.1 GenomicStudyIdentifierSearchParam
.... 4.2 GenomicStudyStatusSearchParam
.... 4.3 GenomicStudyPatientSearchParam
.... 4.4 GenomicStudySubjectSearchParam
.... 4.5 GenomicStudyFocusSearchParam
.... 4.6 MolecularDefinitionIdentifierSearchParam
.... 4.7 MolecularDefinitionMoleculetypeSearchParam
.... 4.8 MolecularDefinitionTopologySearchParam
.... 4.9 MolecularDefinitionMemberSearchParam
.... 4.10 MolecularDefinitionTypeSearchParam
.... 4.11 Genomic Study
.... 4.12 Molecular Definition
.... 4.13 Amino Acid 1-letter Ambiguous Symbols ValueSet
.... 4.14 Amino Acid 1-letter Unambiguous Symbols ValueSet
.... 4.15 Amino Acid 3-letter Ambiguous Symbols ValueSet
.... 4.16 Amino Acid 3-letter Unambiguous Symbols ValueSet
.... 4.17 Coordinate System Normalization Method ValueSet
.... 4.18 Coordinate System Origin ValueSet
.... 4.19 Genomic Study Change Type VS
.... 4.20 Genomic Study Data Format VS
.... 4.21 Genomic Study Method Type VS
.... 4.22 Genomic Study Region Type VS
.... 4.23 Genomic Study Status VS
.... 4.24 Genomic Study Type VS
.... 4.25 HUGO Gene Nomenclature Committee Gene Names (HGNC)
.... 4.26 Molecular Definition Literal Encoding VS
.... 4.27 Molecular Definition Molecule Type
.... 4.28 Molecular Definition Organism
.... 4.29 Molecular Definition Representation Code
.... 4.30 Molecular Definition Representation Focus VS
.... 4.31 Molecular Definition Strand
.... 4.32 Molecular Definition Topology
.... 4.33 Molecular Definition Type
.... 4.34 Nucleotide DNA 1-letter Ambiguous Symbols ValueSet
.... 4.35 Nucleotide DNA 1-letter Unambiguous Symbols Including N ValueSet
.... 4.36 Nucleotide DNA 1-letter Unambiguous Symbols ValueSet
.... 4.37 Nucleotide RNA 1-letter Unambiguous Symbols ValueSet
.... 4.38 Amino Acid Symbols
.... 4.39 Coordinate System Normalization Method CodeSystem
.... 4.40 Coordinate System Origin CodeSystem
.... 4.41 Genomic Study Change Type
.... 4.42 Genomic Study Data Format
.... 4.43 Genomic Study Method Type
.... 4.44 Genomic Study Region Type
.... 4.45 Genomic Study Status
.... 4.46 Genomic Study Type
.... 4.47 Molecular Definition Literal Encoding
.... 4.48 Molecular Definition Molecule Type CodeSystem
.... 4.49 Molecular Definition Representation Focus
.... 4.50 Molecular Definition Strand CodeSystem
.... 4.51 Molecular Definition Topology CodeSystem
.... 4.52 Molecular Definition Type CodeSystem
.... 4.53 NCBI Taxonomy (fragment)
.... 4.54 Nucleotide DNA Symbols
.... 4.55 Nucleotide RNA Symbols
.... 4.56 Genomic Study Example
.... 4.57 Genomic Study Lung Mass Example
.... 4.58 Genomic Study PGx Example
.... 4.59 Genomic Study Somatic Study Example
.... 4.60 Genomic Study Trio Example
.... 4.61 Molecular Definition Allele 1
.... 4.62 Molecular Definition Allele 2
.... 4.63 Molecular Definition Allele 3
.... 4.64 Molecular Definition Allele 4
.... 4.65 Molecular Definition Allele 5
.... 4.66 Molecular Definition Allele 6
.... 4.67 Molecular Definition Allele 7
.... 4.68 Molecular Definition Allele Sliced 1
.... 4.69 Molecular Definition Allele Sliced CYP2C19 1016
.... 4.70 Molecular Definition Allele Sliced CYP2C19 661
.... 4.71 Molecular Definition Allele Sliced CYP2C19 Literal Only
.... 4.72 Molecular Definition Allele Sliced HLA00381
.... 4.73 Molecular Definition Allele Sliced PGx Variant 1011
.... 4.74 Molecular Definition Example
.... 4.75 Molecular Definition Genomic CYP2C19 Accession
.... 4.76 Molecular Definition Genotype 1
.... 4.77 Molecular Definition Haplotype 1
.... 4.78 Molecular Definition Haplotype 2
.... 4.79 Molecular Definition Replaced Sequence
.... 4.80 Molecular Definition Replacement Sequence
.... 4.81 Molecular Definition Sequence 0 2B Concatenated
.... 4.82 Molecular Definition Sequence 1
.... 4.83 Molecular Definition Sequence 1 2B Concatenated
.... 4.84 Molecular Definition Sequence 2 2B Concatenated
.... 4.85 Molecular Definition Sequence A
.... 4.86 Molecular Definition Sequence A AA IUPAC
.... 4.87 Molecular Definition Sequence A DNA IUPAC
.... 4.88 Molecular Definition Sequence AF1961831 URL
.... 4.89 Molecular Definition Sequence C
.... 4.90 Molecular Definition Sequence CGG
.... 4.91 Molecular Definition Sequence CYP2C19 Accession
.... 4.92 Molecular Definition Sequence CYP2C19 Attached
.... 4.93 Molecular Definition Sequence CYP2C19 Concatenated Regions
.... 4.94 Molecular Definition Sequence CYP2C19 Downstream Region
.... 4.95 Molecular Definition Sequence CYP2C19 Gene Region
.... 4.96 Molecular Definition Sequence CYP2C19 Upstream Region
.... 4.97 Molecular Definition Sequence CYP2C19 URL
.... 4.98 Molecular Definition Sequence FMR1
.... 4.99 Molecular Definition Sequence FMR1 CGG 20x Edited Referenced
.... 4.100 Molecular Definition Sequence FMR1 CGG 20x Repeat
.... 4.101 Molecular Definition Sequence G
.... 4.102 Molecular Definition Sequence GGC
.... 4.103 Molecular Definition Sequence HLA000011
.... 4.104 Molecular Definition Sequence LRG584
.... 4.105 Molecular Definition Sequence MSH2
.... 4.106 Molecular Definition Sequence NC00001010 URL
.... 4.107 Molecular Definition Sequence NM0007694 URL
.... 4.108 Molecular Definition Sequence Repeat
.... 4.109 Molecular Definition Sequence T
.... 4.110 Molecular Definition Starting Sequence 2B Extracted
.... 4.111 Molecular Definition Starting Sequence 2B Relative
.... 4.112 Molecular Definition Variation 1
.... 4.113 Molecular Definition Variation CYP2C19 1015 SPDI
.... 4.114 Molecular Definition Variation CYP2C19 1015 VRS
.... 4.115 Molecular Definition Variation CYP2C19 1016 VCF
.... 4.116 Molecular Definition Variation CYP2C19 661
.... 4.117 Molecular Definition Variation CYP2C19 991 HGVS
.... 4.118 Molecular Definition Variation PGx Variant 1011
.... 4.119 Molecular Definition Variation PGx Variant 1012
.... 4.120 Molecular Definition Variation PGx Variant 1013
.... 4.121 Molecular Definition Variation PGx Variant 1014
.... 4.122 Molecular Definition Variation PGx Variant 1015
.... 4.123 Molecular Definition Variation PGx Variant 1016
.... 4.124 Molecular Definition Variation PGx Variant 1017
.... 4.125 Molecular Definition Variation PGx Variant 1018
.... 4.126 Molecular Definition Variation PGx Variant 1019
.... 4.127 Molecular Definition Variation PGx Variant 1020
.... 4.128 Molecular Definition Variation PGx Variant 1021
.... 4.129 CNVAnalysis-called
.... 4.130 De Novo Child Patient
.... 4.131 De Novo Encounter
.... 4.132 De Novo Father Patient
.... 4.133 De Novo Father Related Person
.... 4.134 De Novo Mother Patient
.... 4.135 De Novo Mother Related Person
.... 4.136 De Novo Specimen 1
.... 4.137 De Novo Specimen 2
.... 4.138 De Novo Specimen 3
.... 4.139 Denovo Mutation Example Group
.... 4.140 example-genomicFile-af1961831-url
.... 4.141 example-genomicFile-cyp2c19-accession
.... 4.142 example-genomicFile-cyp2c19-attached
.... 4.143 example-genomicFile-cyp2c19-url
.... 4.144 example-genomicFile-hla00001
.... 4.145 example-genomicFile-mw7162561
.... 4.146 example-genomicfile-nc00001010-url
.... 4.147 example-genomicFile-ng0083843
.... 4.148 example-genomicFile-nm0002513
.... 4.149 example-genomicFile-nm0007694
.... 4.150 example-genomicFile-nm0020245
.... 4.151 Father Patient
.... 4.152 Father Specimen
.... 4.153 Genomic Encounter
.... 4.154 Genomic Patient
.... 4.155 Genomic Service Request
.... 4.156 Genomic Service Request 2
.... 4.157 Genomic Service Request 3
.... 4.158 Genomic Service Request 4
.... 4.159 Genomic Service Request Father
.... 4.160 Genomic Service Request Mother
.... 4.161 Genomic Service Request Proband
.... 4.162 Genomic Specimen
.... 4.163 Genomic Study Examples List
.... 4.164 Genomic Study Operations List
.... 4.165 genomicBEDfile
.... 4.166 genomicFile1
.... 4.167 genomicFile2
.... 4.168 genomicFile3
.... 4.169 genomicFile4
.... 4.170 genomicFileFather
.... 4.171 genomicFileGroupAsSubject
.... 4.172 genomicFileMother
.... 4.173 genomicFileProband
.... 4.174 genomicVCFfile
.... 4.175 genomicVCFfile-cnv
.... 4.176 genomicVCFfile-simple
.... 4.177 Molecular Definition Examples List
.... 4.178 Molecular Definition Operations List
.... 4.179 Mother Patient
.... 4.180 Mother Specimen
.... 4.181 NGS Sequencing Device
.... 4.182 Normal Specimen
.... 4.183 PGx Patient
.... 4.184 PGx Service Request
.... 4.185 PGx Specimen
.... 4.186 pgxVCFfile
.... 4.187 Practitioner 01
.... 4.188 Practitioner 02
.... 4.189 Proband Patient
.... 4.190 Proband Specimen
.... 4.191 SimpleVariantAnalysis-called
.... 4.192 Somatic Patient
.... 4.193 Somatic Service Request
.... 4.194 somaticCalledRegions
.... 4.195 somaticFusionFile
.... 4.196 somaticRNAstudiedRegions
.... 4.197 somaticVCFfile
.... 4.198 Triodenovo Software Device
.... 4.199 Tumor Specimen
.... 4.200 WES-FullSequencedRegion-GRCh38