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PML: OMG Standard (polymorphism markup language) DNA & Marker domains. PHENOTYPES. GENOME CO-ORDINATES. ASSAYS. CORRELATION / ASSOCIATION. DB_CROSSREFS ID_Lists. HAPLOTYPES. GENOTYPES. MARKERS CurationTracking CurationDate GeneID HgbaseID GeneRegion ProtSeqChanged
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PML: OMG Standard (polymorphism markup language) DNA & Marker domains PHENOTYPES GENOME CO-ORDINATES ASSAYS CORRELATION / ASSOCIATION DB_CROSSREFS ID_Lists.... HAPLOTYPES GENOTYPES MARKERS CurationTracking CurationDate GeneID HgbaseID GeneRegion ProtSeqChanged SpliceSiteChanged ValidityStatus VariationType FlankDNAType UpstreamSeq DownstreamSeq CytogenLocn RepeatContent ALLELES CurationTracking CurationDate HgbaseID AlleleID DNASeq mRNASeq CodonSeq DonorSpliceSite AcceptSpliceSite AASeq GENES GeneID GeneName GeneSymbol ChmLocation 1 1 1 1 1 REFSEQS CurationTracking CurationDate HgbaseID GenomicSeqAccn GenomicSeqNumb cDNASeqAccn cDNASeqNumb PrtSeqAccn PrtSeqNumb 1 MARKERSOURCE HgbaseID SourcesID HotLink HotlinkID SOURCES SourcesID DbNameHotLink CitationID SubmissionText SubmittersID 1 CITATIONS CitationID CitationDetails HOTLINKS URLs... 1 SUBMITTERS SubmittersID SubmitterName ContactDetails FREQUENCIES AlleleID PopnID SourceID Frequency NumberScored POPULATIONS PopnID NumberPeople Population 1 1
PML-2 Improved genotype data + phenotype data MAP TRANSLATION UML SEQUENCE ASSAY FREQUENCY HAPLOTYPE IDENTIFIABLE PUBLICATIONS
GENOTYPING(experiment, results) MARKER(variant, alleles, assay) SAMPLES(phenotypes, sets) DNA(plates, arrays, etc)
FireBird database software Ms Visual Studio.NET Data-Handlingcode Graphical User-Interface code Database modeland code
GenoScore: A Self-Contained Database and GUI for Genotype Data Import, Export, and Integration for Small to Large Genotyping Facilities
PHENOTYPEGENERALKEYWORD PHENOTYPESPECIFICKEYWORD PHENOTYPEGENERALCITATION PHENOTYPESPECIFICCITATION * PHENOTYPEGENERAL PhenotypeGeneralID * KeywordID * KEYWORD * PhenotypeGeneralID * PhenotypeGeneralID PHENOTYPEDISEASEAREA PHENOTYPECATEGORY * KeywordID * * * PhenotypeSpecificID DiseaseAreaID CategoryID PhenotypeGeneralID * CitationID * DISEASEAREA CATEGORY CITATION * CitationID * * PhenotypeGeneralID PhenotypeSpecificID PHENOTYPESPECIFIC PhenotypeSpecificID * OBSERVATION SAMPLESET / ASSAYSET * ObservationID VALUE
* GenotypecomboID HaplotypecomboID AllelecomboID * * dbSNPValidationCode ValidationCode * AutoMarkerID BUILD MARKER * * ReplacedMarker AutoMarkerID HGVbase-G2P RESEARCHER ResearcherID ResearcherID * * AUTHOR SUBMITTER * * StudySubmissionID StudySubmissionID STUDYSUBMISSION SAMPLESETOVERLAP EXPERIMENTOVERLAP OLIGO * * ExperimentID SamplesetID * AssayID StudySubmissionID StudySubmissionID StudySubmissionID * * * SAMPLESET PHENOTYPE:General, Specific, Normal range,Assessment, Keywords,Citations, Hierarchy EXPERIMENT ASSAY * ObservationID * SamplesetID * ExperimentID * AssayID ASSAYSET * * StudySubmissionID FREQUENCY AssayID * AssaysetID STUDYSUBMISSIONCROSSREF ASSAYMARKER * COORDINATES: GenesBands * CrossrefID * AutoMarkerID AutoMarkerID * StudySubmissionID STUDYSUBMISSIONCITATION HAPLOTYPECOMBO ALLELECOMBO GENOTYPECOMBO ANNOTATIONS: GenesGeneRegions RepeatSeqsSeq Quality DuplicationsCNPsFunclPredictns * CitationID AutoHaplotypeID * * AutoAlleleID * AssayID * GenotypeID HAPLOTYPE ALLELE MARKER GENOTYPE HAPLOTYPESET * * AutoMarkerID HaplotypesetID AutoHaplotypeID AutoAlleleID CITATION * AutoMarkerID * * HAPLOTYPEALLELE MARKERCOORD * GenotypeID * GENOTYPEDEF AutoHaplotypeID/AutoAlleleID * AutoMarkerID * CitationID * CrossrefID MARKERCROSSREF CITATIONCROSSREF CROSSREF * * AutoHaplotypeID CrossrefID HAPLOTYPECROSSREF * CrossrefID