NGS Genomic, or Germline/ Genomic build.version NGS is used for whole regional somatic Chromosome genome, whole exome, (genomic Start large gene panels, or single contig, also Stop gene or region cDNA) Reference nucleotides Observed nucleotides Allelic fraction and subclonality Additional: HGVS nomenclature at cDNA level Biomarker (optional) NGS Genomic, or HLA Genomic reference HLA regions are not regional sequence.version included in the genome (genomic With enhanced variant detection build, so locus-specific contig,also against assembled cDNA reference sequences must cDNA) Start be used Stop Reference nucleotides Observed nucleotides Additional: HLA specific nomenclature Extension of Sequence Variation And Cytogenetic HL7 Models Current HL7 standards for sequence variation and cytogenetic findings use established clinical standards. These will be extended to support inclusion of established bioinformatics representation, to support linking to research and clinical information systems.
NGS Genomic, or regional (genomic contig, also cDNA) Germline/ somatic Genomic build.version Chromosome Start Stop Reference nucleotides Observed nucleotides Allelic fraction and subclonality Additional: HGVS nomenclature at cDNA level Biomarker (optional) NGS is used for whole genome, whole exome, large gene panels, or single gene or region NGS Genomic, or regional (genomic contig,also cDNA) HLA Genomic reference sequence.version With enhanced variant detection against assembled cDNA Start Stop Reference nucleotides Observed nucleotides Additional: HLA specific nomenclature HLA regions are not included in the genome build, so locus-specific reference sequences must be used Extension of Sequence Variation And Cytogenetic HL7 Models Current HL7 standards for sequence variation and cytogenetic findings use established clinical standards. These will be extended to support inclusion of established bioinformatics representation, to support linking to research and clinical information systems.