Skip Headers
Oracle® Health Sciences Omics Data Bank Programmer's Guide
Release 2.5

E35680-04
Go to Table of Contents
Contents
Go to Index
Index
Go to Feedback page
Contact Us

Go to previous page
Previous
Go to next page
Next
PDF · Mobi · ePub

1 Omics Data Model

This chapter contains the following topics:

1.1 Introduction

Oracle Health Sciences Omics Data Bank (ODB) consists of two groups of tables. One set of tables is a reference set to provide the genomic features metadata required to link specimen sample results to specific regions of the genome., gene definitions, pathway or protein definitions. The second set of tables called the result set in the model captures the specimen sample genomic results and links each result to an object in the reference model. Each specimen sample is linked back to the patient. The patient link is accomplished by linking ODB with Cohort Data Model (part of Oracle Health Sciences Cohort Explorer).

Omics Data Bank (ODB) consists of the data model and loaders and does not include any front-end user interfaces but only command line APIs. A set of scripts that can be used to load reference genomic data from specific sources and several types of result data from a limited set of formats are included with the model.

The model is intended to handle very large amounts of data (in the order of terabytes and more). To gauge the scale of the data, one should consider that the human genome is around 3 billion bases in each strand and the number of genes that produce proteins is around 23,000. Each gene has many different variants and attributes that are described in detail. This holds true for each protein, gene component, pathway etc, and thus a lot of supporting reference data is loaded for each gene, protein or pathway. The data cannot merely be reloaded to maintain an organized table as is the case with other tables that use ETL processes to load data. One approach is to use Index Organized tables since data can be added to the reference model as more reference data is discovered for each gene.

ODB 2.5 can handle multiple versions of reference data in the same instance, for example GRCh36, GRCh37. You can load multiple versions of each reference data and link the results to a specific reference version based on the requirement. For example user with sequencing data mapped to GRCh36 will link the results to GRCh36 reference data loaded from ENSEMBL. The multiple reference version support is extended to ENSEMBL, SwissProt, HUGO, Pathway, SIFT/PolyPhen, ADF and probe loader.

ODB model can also handle multiple species concurrently, both on the reference and result side of the data model.

1.1.1 Reference Data

Reference data is loaded from the following distinct sources:

  1. The genomic information with corresponding gene data is loaded from EMBL files which are stored online in the Ensembl database (http://www.ensembl.org/). Ensembl is a joint project of the European Bioinformatics Institute and the Wellcome Trust Sanger Institute. This online database maintains references to other online database projects (dbSNP, NCBI, Cosmic, and so on) and provides references to each of these database. The model loads this cross reference information to, including known variation data, let queries to use specific database references if needed. Files in the genuine EMBL format from other sources can be usually loaded in the same way. (However, their successful loading cannot be guaranteed). Each release of Ensembl data is treated a separate 'DNA' reference version. Current and alternate releases are available at their FTP publication repository.

  2. The second source is the online SwissProt database (http://www.ebi.ac.uk/uniprot/) from which the model obtains protein information. This database project is also a consortium of various groups including the European Bioinformatics Institute. An FTP link to current release of the SwissProt file is given on their download page, older SwissPort releases are stored large compressed files in their FTP repository.

  3. The third source is the HUGO Gene Nomenclature Committee (http://www.genenames.org/). This source provides reference seed information required for identifying human gene locations annotation only. The HUGO gene names are needed to find various cross references and the correct chromosome number for each gene. The HUGO Gene Nomenclature Committee is the authoritative group for all gene names. Since the HGNC HUGO dataset is continuously updated, it does not have a archive of older versions or releases. Any dataset taken will be as current as the date it was retrieved.

  4. The fourth reference source is PathwayCommons (http://www.pathwaycommons.org/pc/) which is used as the source for published pathways and proteins/genes participating in each pathway. The coverage of pathway as a reference is minimal. Pathway provides a list of current and previous releases of dataset to retrieve from its download page.

  5. The fifth reference source is Human Genome Mutation Database (HGMD) (http://www.hgmd.cf.ac.uk/ac/index.php) This reference source currently provides information about inherited genomic variants, as well as information connecting inherited mutations and genes with human diseases and pharmacological effects. The latter is obtained from HGMD's commercial partner BioBase International.

In general, the above files use similar features to represent the data. The EMBL format is a flat file representation which provides an easy mechanism to parse and store data in a separate database structure. Both Ensembl and SwissProt have native schemas that can be downloaded. However, these schemas are 3NF structures that require a lot of work to coerce into a star schema model. The ODB model does not copy the source schema structures in any way. In addition, there are a lot of extra objects in the native schemas that are not necessary for the type of queries needed for the ODB requirements and these objects are omitted in the ODB schema.

Most of the online databases let you download complete references, or specific references for sections of the genome. Since some customers may only need some genes or proteins, and some may not need any protein information at all, the model permits any combination of specific data to be loaded and updated. Ensembl and SwissProt databases are maintained in an additive manner, so that new data is added on top of the existing data. This lets the ODB reference data to be expanded as required by the customer. The HUGO, Pathwaycommons, and HGMD databases are do not keep older versions but rather provide the latest versions only for download.

1.1.2 Result Data

In ODB, the data model handles two main types of genetic results: gene expression and sequencing. Gene Expression experiments capture information on how effectively certain genes respond to various conditions., or how they differentially express under different conditions. On the other hand, for sequencing results, while there are many different types of sequencing techniques, the net effect is to record all of the variants which include SNPs, small indels, large structural variations, structural re-arrangements and also non-variant information detected for each sample being tested, copy number variation and other related features

The model is designed to facilitate easy querying of all of the above result types in a single SQL statement across multiple versions of references or within specific reference version.

1.2 Logical Data Model

ODB contains two sets of tables:

  1. Reference data tables

  2. Result data tables

Each set of tables comes with a set of loading scripts to load data into these tables. The reference loaders write to the reference tables, while the result loaders write to result tables. and link to reference. However, there is one exception, the W_EHA_VARIANT table, where the sequencing result loaders enable you to report on any novel variants by writing to this table with any new variants found. A dedicated procedure invoked by the result loader reports on any novel variants.

Figure 1-1 shows how the reference tables link to create the ODB reference. Only table names are shown in the figure.

Figure 1-1 Reference Data Logical Model (Core Tables Only)

Description of Figure 1-1 follows
Description of "Figure 1-1 Reference Data Logical Model (Core Tables Only)"

Figure 1-2 shows how the result tables link to create the ODB result tables section. Only table names are shown in the figure.

Figure 1-2 Result Data Logical Model (Core Tables Only)

Description of Figure 1-2 follows
Description of "Figure 1-2 Result Data Logical Model (Core Tables Only)"

1.3 Reference Data Tables

The reference data starts with the SPECIES and the DNA_SOURCE tables.

W_EHA_SPECIES

This species table stores information about each genome in the database. The current model permits any number of species genomes to be loaded. You must specify species in queries if there are similar genes between the organisms being tested.

The table also stores the promoter offset value that is used to define the promoter region of each gene, link to the species record, if no PROMOTER component is defined. If set, this value will override the global promoter offset defined in W_EHA_PRODUCT_PROFILE table.

W_EHA_DNA_SOURCE

The DNA_SOURCE table stores multiple records for different reference DNA strands for each species. Each cell in the species has a copy of this reference DNA. There are buffers of DNA considered to be the reference for each organism. These reference strands are then used to map detected variations for each organism tested. The W_EHA_DNA_SOURCE table has the foreign key top SPECIES and also has a CLOB field to store the reference strand information. The DNA has a specific character notation to keep track of each DNA base. There are additional characters used for sections that have not been sequenced (N) and there are other characters used to represent other possible DNA bases. The records in this table are used as the parent records to map genes and gene components. If Ensembl releases patches that show how some genes are re-defined, new DNA_SOURCE records are created and then linked to the other records as needed. This table also stores the chromosome location which is described later. The position of features such as variants, segments, and so on in ODB is 1-based, following the standard from Ensembl. With the introduction of multiple reference support, DNA_SOURCE table links each reference DNA record with its DNA version which is stored in W_EHA_VERSION table under version type 'DNA'.

Figure 1-3 Genome Division by the Data Model

Description of Figure 1-3 follows
Description of "Figure 1-3 Genome Division by the Data Model"

W_EHA_GENE

Each chromosome of the DNA strand has many different genes, each of which has a start and end position. The entire size of the gene does not create the protein directly, but there are recognized sections of the DNA that scientists agree should be considered as part of the gene. The W_EHA_GENE table has fields for how the Ensembl database refers to the gene, and the recognized gene name. The recognized gene name is maintained by HUGO Gene Nomenclature Committee (http://www.genenames.org/). This reference information is loaded into the model to provide accurate chromosome information for each gene since the patch DNA sequences loaded do not list chromosomes.

W_EHA_GENE_SEGMENT

This table is required to map the different segments of a gene to each buffer. Some genes are sequenced in multiple buffers and require this joining table to track each segment. This table gives the location in the buffer and a sequence number to keep track of the order of each segment that composes the gene. There is also a COMPLEMENT field that is used to indicate if a coding strand of a gene is on the reverse strand (COMPLEMENT=1) or forward strand (COMPLEMENT=0) of a chromosome.

_XREF, _QUALIFIER

The XREF table associated with many of the different tables is used to list all of the cross reference information stored in the Ensembl database. There is a finite list of databases used, and each database has a specific format for the reference ID. You can use these reference ID values for queries. The _QUALIFIER table associated with different tables is used to list other attributes. Each object can have an unlimited number of attributes such as /note that provides information to annotate the object. The database model stores this annotation data in case it is needed for reference.

W_EHA_GENE_STRUCTURE

The process of gene transcription is accomplished by many different interim molecules that originate from sections of the gene. For each protein created, there is a distinct set of sections which are used. Each of these groups is identified in the EMBL file having the same TRANSCRIPT_ID qualifier. A GENE_STRUCTURE record is created to link to the protein and to be used as a parent record for all of the gene components. A given gene can have multiple proteins that are created (sometimes using the same sections) and each has a different structure. Also, earlier research may have incorrect gene structures and the information is kept for historical reasons.

W_EHA_GENE_COMPONENT

This table is used to store the various gene components. The EMBL file has many different objects listed (mRNA, CDS, STS, tRNA, misc RNA) and they all have a specific meaning. Views are used to group the various types of objects in case there are queries to find genetic results that intersect with various gene regions. More user friendly names are given (such as mRNA = MESSENGER_RNA, CDS = CODING_REGION, STS = STRUCTURAL_SEGMENTS, and so on). User can run various queries searching for mutations that occur in any of these regions, including the entire gene region.

W_EHA_GENE_COMP_SEGMENT

This table is used to link each component to the DNA_SOURCE. Many of the gene components have joined sections. Sometimes the joined sections are detected in different source buffers as well and the foreign key to DNA_SOURCE is required for each part of the gene components. There is a sequence number to keep track of the order of each section used in the gene component.

W_EHA_PROTEIN

Most of the known genes produce different types of protein molecules. The EMBL file lists the amino acids that comprise each protein molecule and uses an identifier for each protein molecule. The SwissProt file contains additional information about the protein molecule. There are more descriptive names for each protein which are not stored in the EMBL file (such as, insulin). The SwissProt file provides links to cross references and literature references. Each protein molecule can have many different components which are linked to this parent PROTEIN record.

W_EHA_PROT_COMPONENT

This table is used to store all the protein components that are stored in the SwissProt files. You can import all or as many of the SwissProt files needed. This data may also be important for queries or reference. This can be important to show changes that may occur when variants are detected in the gene regions used to generate the amino acids of the protein.

W_EHA_VARIANT

The VARIANT table is used to record the known reference sequence, REFERENCE_SEQ, corresponding to one or more variants that differ from the reference DNA_SOURCE. Most of these variants are well documented and compiled from other research. When results are uploaded, sometimes novel variants are detected and there are no known references for this variant.

These results generate new VARIANT records which may be of interest to researchers. There is a STATUS field which is used to indicate NOVEL or KNOWN variants. Since this table is queried frequently, it is quite large and requires partitioning. The VARIANT table has a foreign key to the DNA_SOURCE record, not the GENE record. This is because some genes may overlap, and there may also be several structures that are affected by a variant. This table is used to create result foreign keys as described later.

W_EHA_VARIANT_X

This table has a foreign key to W_EHA_VARIANT table and only stores the allele value for the large structural variant coming from the VCF file. This value comes from the ALT column present in the VCF file.

W_EHA_HUGO_INFO

This table is very important to store reference seed information needed for identifying gene locations. The EMBL files report each gene with a LOCUS_TAG which uses the registered name with the HUGO Gene Nomenclature Committee (http://www.genenames.org/). The entire reference data from this group is loaded as seed data in this table. This is important because of the way the EMBL files store patch sequences. The patch sequences (which are corrections to the human genome project) list the chromosome using the accession number of the DNA used for detection. The W_EHA_HUGO_INFO table is required to look up the HUGO gene names to find various cross references and the correct chromosome number for each gene. Each gene in the HUGO_INFO table is linked to specific version of HUGO reference data.

W_EHA_PATHWAY

Pathway is used to describe a series of interactions in a cell. Numerous biological pathways exist, including genetic, metabolic, signaling, and so on. This table is used to store publicly available pathways. Each pathway's participants are defined in the PATHWAY_PROTEIN table which has a foreign key to the PATHWAY table. Each pathway in PATHWAY table is linked to W_EHA_VERSION table with specific version of Pathwaycommons build release.

W_EHA_PATHWAY_PROTEIN

This table is used to track which gene or protein belongs to a particular pathway. It has a foreign key to the PATHWAY table which associates each gene or protein with one or more pathways.

W_EHA_VARIANT_PREDICTION

This table stores information relevant to SIFT (Sorting Intolerant From Tolerant) or Polyphen (Polymorphism Phenotyping) algorithms scores. SIFT or Polyphen are publicly available algorithms describing the impact of each variant on the resulting gene structure. The impact is evaluated both as a numeric score and a formal annotation, such as deleterious, probably damaging and so on.

Polymorphism Phenotyping (PolyPhen) is an automated tool for predicting the possible impact of an amino acid substitution on the structure and function of a human protein. This prediction is based on straightforward empirical rules which are applied to the sequence, phylogenetic, and structural information characterizing the substitution. Possible annotation values are probably damaging, possibly damaging, benign, and unknown.

Sorting Intolerant From Tolerant (SIFT) predicts whether an amino acid substitution affects protein function. SIFT prediction is based on the degree of conservation of amino acid residues in sequence alignments derived from closely related sequences, collected through PSI-BLAST. Possible annotations are tolerated, and, deleterious.

W_EHA_PREDICTION_CODE

This table stores the possible annotations for SIFT or Polyphen algorithms that are mentioned above, such as probably damaging, possibly damaging, deleterious, and tolerated, and so on.

W_EHA_VARIANT_EFFECT

This table stores variant impact or effect as computed by Oracle proprietary script (stored procedure) based on variant effect on the resulting protein. The possible values of net effects are as follows:

W_EHA_PRODUCT_PROFILE

This table stores default global Promoter and Flanking offsets which are the inputs you provide during installation. It also stores flags for various log level flags and DBMS output for data load ETLs and other procedure calls. Another column in this table 'VCF_FORMAT' stores a list of data types for the FORMAT column in the VCF file. Promoter offset is used during querying (through Promoter view: W_EHA_PROMOTER_V) and can be changed at any point. If PROMOTER_OFFSET in W_EHA_SPECIES is set, this promoter offset takes precedence over the one in W_EHA_PRODUCT_PROFILE.

Important

  1. Flanking offset should always be set to value greater than Promoter offset. Promoters are assumed to fit within the Flanking offset region.

  2. Changing the Flanking offset requires reloading all results tables which use genomic coordinates, such as sequencing and copy number variation result data. It is imperative to keep Flanking offset unchanged.

The logging level flags that can be set by the user include: Warning, and Info (which are default set to 'Y'); Debug, TRACE, and DBMS output which are set to 'N').

W_EHA_PRODUCT_VERSION

This table lists the current version of Omics Data Model and is used primarily by Cohort Explorer application interface (not included in this release). For example, currently it is set to 2.5.

W_EHA_DISEASE

This table stores names of diseases with possible genetic linkage.

W_EHA_DISEASE_GENE

This table stores literature derived associations between diseases and genes that might contain disease causing mutations. It aggregates the mutation-disease linkage reported in the W_EHA_DISEASE_G_VARIANT table and associates the whole gene sequence with diseases caused by mutations in the gene. It also contains disease linkage for genes with disease causing variants for which no exact genomic coordinates were provided.

W_EHA_DISEASE_G_VARIANT

This table stores disease linkage for variants with known genomic coordinates. It includes linkage confidence provided by HGMD curators.

W_EHA_DRUG

This table stores DrugBank-derived drug names.

W_EHA_DRUG_TARGET

Stores drug and gene associations linking DrugBank-derived drug names to their therapeutic targets.

Figure 1-4 ODB Disease and Drug Linkage

Description of Figure 1-4 follows
Description of "Figure 1-4 ODB Disease and Drug Linkage"

W_EHA_ADF

This table stores the configuration information for the Array Data Format (ADF) files, which contains the annotation data required by Two-Channel gene expression result datasets. An ADF dataset loads into the W_EHA_ADF_* reference tables described below. Each file load creates an ADF record and the records inserted into W_EHA_ADF_COMPOSITE and W_EHA_ADF_REPORTER will have a 'ADF_WID' foreign key column to this table.

W_EHA_ADF_COMPOSITE

This table stores the gene composite elements associated with the 2-channel result data present in W_EHA_RSLT_2CHANNEL_GXP table. The composite element coordinates are input from the array design file (adf) for the AgilentG4502A_07 platform. A additional table W_EHA_ADF_COMPOSITE_XREF is kept to store any external cross reference data for composite elements.

W_EHA_ADF_REPORTER

This table stores the probe (reporter) elements associated to the composite gene element present in W_EHA_ADF_COMPOSITE table. The reporter identifiers are input from the array design file (adf) for the AgilentG4502A_07 platform. An additional table W_EHA_ADF_REPORTER_XREF is kept to store any external cross reference data for Reporters.

W_EHA_ADF_REPORTER_COORD

This table stores the probe (reporter) elements genomic coordinates associated to the reporter indentifiers present in the w_eha_adf_reporter table. The reporter genomic coordinates are input from the array design file (adf) for the AgilentG4502A_07 platform.

W_EHA_PROBE

This table holds probe information for gene expression results, and each probe is designed to represent a particular gene. Since probe design varies by vendors, there may be multiple probes that correspond to the same gene. In the rare instance where more than one gene matches a probe, the model has a W_EHA_PROBE_ALT_LINK that needs to be manually populated. W_EHA_PROBE must be populated by the expression loader prior to loading any results corresponding to gene expression. In addition, any reference information pertaining to probes can be recorded in the W_EHA_PROBE_XREF table.

1.4 Result Data Tables

The model currently supports the following two major categories of results:

Types of sequencing results include simple variants, copy number variation, and no-call. Gene expression results comprise of regular microarray gene expression or RNA-seq results. Overall, results are populated into the following major tables:

  1. W_EHA_RSLT_SEQUENCING

  2. W_EHA_RSLT_GENE_EXP

  3. W_EHA_RSLT_NOCALL

  4. W_EHA_RSLT_RNA_SEQ

  5. W_EHA_RSLT_2CHANNEL_GXP

  6. W_EHA_RSLT_COPY_NBR_VAR

  7. W_EHA_RSLT_NON_VARIANT

  8. W_EHA_RSLT_CONFLICT

  9. W_EHA_RSLT_STRUCT_VAR

  10. W_EHA_RSLT_SV_BREAKEND

All the major result tables listed above contain foreign keys to W_EHA_RSLT_FILE, W_EHA_RSLT_STUDY, W_EHA_RSLT_SPECIMEN, W_EHA_RSLT_TYPE, W_EHA_GENE and W_EHA_VERSION tables.

Each record in these tables is linked to a specific reference 'DNA' source Version Label in W_EHA_VERSION table by the VERSION_WID foreign key. Additiionally, where possible, each record is linked to a specific W_EHA_GENE record to allow for a gene based partitioning of these result tables. Those records that cannot be linked to a gene record have a GENE_WID value of '0'.

W_EHA_RSLT_SEQUENCING

This table contains sequencing results, more specifically variant information. It has a foreign key to the W_EHA_VARIANT table. The records in this table are linked to the record in the variant reference table. Information such as insertions, deletions, or substitutions are recorded in this table along with any quality metrics on this information.

Note:

A record in the W_EHA_RSLT_SEQUENCING table may come from any four result file types, namely gVCF, VCF, MAF, or Complete Genomics masterVar file.

W_EHA_RSLT_SEQUENCING_X

This is an additional table to store the allele value greater than 500 bases. It is always used as a helper table along with the main RSLT_SEQUENCING table.

W_EHA_RSLT_NOCALL

This table contains results coming from VCF, gVCF and Complete Genomics sequencing files. Only CGI masterVar format records no-call results, that is, instances when there is incomplete information to make a call regarding variant information on an allele.

W_EHA_RSLT_NON_VARIANT

This table contains the non-variant information belonging to a specimen coming from the VCF and gVCF file. The VCF loader will populate this table when used in either 'GVCF' mode or 'NON-VAR' mode provided the file contains non-variant information.

W_EHA_RSLT_CONFLICT

This table contains the low quality score variant which conflict with an existing high quality score variant which is reported in W_EHA_RSLT_SEQUENCING table for the same specimen. This table is populated through VCF loader with data coming from the gVCF file.

W_EHA_RSLT_STRUCT_VAR

This table contains the large structural variants coming from the VCF file. This table has a foreign key to W_EHA_VARIANT table and stores information similar to W_EHA_RSLT_SEQUENCING table with some additional information specific to large SV.

W_EHA_RSLT_SV_BREAKEND

This table contains the structural rearrangement data coming from the VCF file.

W_EHA_RSLT_COPY_NBR_VAR

This table contains copy number variation results coming from the Complete Genomics platform and data from Affymetrix Genome-Wide Human SNP Array 6.0 along with any relevant quality or count metrics. This table is being populated via the newly provided CNV loader, which can load .SEG format file, and has been verified to load data from TCGA belonging to Affymetrix Genome-Wide Human SNP Array 6.0. No loader exists to load data from CGI format, however, the tables are designed as to be able to accommodate any attributes specific to CGI cnv data.

W_EHA_RSLT_CNV_X

This is an additional table to store less frequently used sequencing metadata from the input file. It is always used as a helper table along with the main RSLT_COPY_NBR_VAR table.

W_EHA_RSLT_GENE_EXP

This table is loaded from gene expression results and permits storing gene intensity measurements and quality metrics such as p-value and call information. A record can be inserted into this table only if the specified probe already exists in the W_EHA_PROBE table to establish a foreign key relationship.

W_EHA_RSLT_RNA_SEQ

This table is loaded from TCGA RNA SEQ file format for RPKM expression information of exons. The supplied loader only supports the loading of the exon version of the data files. TCGA has 3 different types of files: exon, gene, and splice junctions. Only the exon files are measured by exact chromosome locations. The other two file types are calculated estimations based upon gene locations using the exon data file.

W_EHA_RSLT_2CHANNEL_GXP

This table is loaded from TCGA – Level 3, AgilentG4502A_07 platform specific, microarray dual channel gene expression files. For each gene record, the loader resolves two values it loads to the result table:

The Array Design file information associated with this data is loaded in the ADF Composite and Reporter tables in ODB, described in the Reference tables section of this chapter.

W_EHA_RSLT_TYPE

This table is a pre-seeded table with the types of results currently supported by the model. The result types are listed in Section A, "Additional Result Tables". Each record in the W_EHA_RSLT table supports a single specific result type.

W_EHA_STUDY

This table permits each result to be linked to a study if specified by the end-user during loading. The study table is intended to be a shadow copy of a table in the clinical data model, called the Cohort Explorer Data Model study table, and only holds the study name and description. This table should be populated by the end-user before loading any results pertaining to a given study. The presence of this table enables partitioning the results into groups based on a study the results have been collected for. This partitioning scheme leads to significant performance improvements.

W_EHA_CHROMOSOME

This table holds all the chromosomes names and is pre-seeded with names for all Human chromosomes. Refer to Section A, "Additional Result Tables" for pre-seeded data information. A result record in W_EHA_RSLT_SEQUENCING, W_EHA_RSLT_NOCALL, W_EHA_RSLT_COPY_NBR_VAR may be linked to a particular chromosome. As with the W_EHA_STUDY table, this table is used to partition results for improved query performance.

W_EHA_CHROM_MAPPING

This table stores a list of aliases to chromosomes present in the W_EHA_CHROMOSOME table. Initially this table is seeded with a common chromosome alias list.

W_EHA_RSLT_SPECIMEN

The W_EHA_RSLT_SPECIMEN table is linked to all four result data tables. Every record in any of the result tables must have a foreign key that links to a particular specimen in this table. The W_EHA_RSLT_SPECIMEN table in turn, links to the W_EHA_DATASOURCE table which holds information about the database a given specimen comes from. This information, along with additional fields in SPECIMEN table such as SPECIMEN_NUMBER and SPECIMEN_VENDOR_NUMBER, can be used to uniquely identify and pull more metadata about a given specimen from other source systems. This information is not stored in the ODB.

W_EHA_DATASOURCE

This table stores information regarding specimen sources. Each genomic result must have a specimen record connected to it coming from another schema with patient results. Specimen identifier is the link between the clinical results and genomic results. This table needs to be populated by the user prior to running any result loaders. If ODB is to be used with Cohort Explorer data model, this table should be seeded with one source of specimen samples, which is the Cohort Data Model.

W_EHA_RSLT_FILE

This table contains information about the input file you provide to populate the results. It stores information about the file storage type and the path to the file. The table is designed to store either external files (regular storage denoted by 'E' ), or SecureFiles (secure storage denoted by 'S'). Currently, only loading of regular files is supported by the loaders, although you can manually link to any type of storage including Secure Files. Specific file descriptions as to their native formats and so on is stored in the W_EHA_RSLT_FILE_TYPE table and referenced through foreign keys.

W_EHA_FILE_TYPE

This table is pre-seeded with file types supported by the loaders into the model. The list of valid pre-seeded values is specified in the appendix. W_EHA_RSLT_FILE has a foreign key into this table.

W_EHA_RSLT_FILE_QLFR

This table contains the header information from the VCF and gVCF file. Any line starting with '##' in the VCF and gVCF file will be stored in this table. This is also where alternative location of file is stored, if the user optionally chooses to specify -alt_file_loc in the argument list when loading results.

W_EHA_RSLT_FILE_SPEC

This table stores the foreign key to W_EHA_RSLT_FILE and W_EHA_RSLT_SPECIMEN and basically link a specific file which is loaded to ODB through the loaders to the specimen it belongs to.

1.4.1 Result Tables for Qualifier Metadata

Newly enhanced ODB data model has new tables for Qualifier Metadata attributes, however, there is no loader provided to populate these tables. These tables include:

W_EHA_QUALIFIER

This table describes qualifiers - flexible attributes used in _QLFR tables. Qualifiers extend the concept of name/value pair attributes: they could be assigned to one of three data types - CHARACTER, NUMERIC and DATE and are grouped into functional categories. Units of measure can be specified for numeric qualifiers.

W_EHA_QLFR_CATEGORY

Qualifiers could be grouped based on functional categories. For example, a user might want to create qualifier categories such as DNA Sequencing, Gene Expression, RNA Sequencing, and CNV.

W_EHA_QLFR_TABLE

This table lists all qualifier tags applicable to a specific table.

W_EHA_UNIT_OF_MEASURE

This table holds names of a unit of measure.

W_EHA_QLFR_TRANSLATION

This table stores translation rules to convert values from one unit of measure into another.

W_EHA_RSLT_FILE_SPEC_QLFR

This is the fact table that stores key or value pairs for flexible attributes associated with a particular result file or specimen combination.

Each _QLFR table has a QLFR_WID attribute that points to a QUALIFIER_TAG record in the W_EHA_QUALIFIER table. It also has a foreign key attribute that references a record from a base table. For W_EHA_RSLT_FILE_SPEC_QLFR table the base table is W_EHA_RSLT_FILE_SPEC.

Three separate attributes are used to store character, numeric and date values. If a qualifier data type is NUMBER the QLFR_NUMB_VALUE attribute is populated, else it is empty. Similarly QLFR_DATE_VALUE field is populated for the DATE data type qualifiers. The QLFR_CHAR_VALUE attribute holds a reported value and is populated for any qualifier data type.

Figure 1-5 Qualifier Metadata Tables

Description of Figure 1-5 follows
Description of "Figure 1-5 Qualifier Metadata Tables"

1.4.2 Result Tables for Differential Expression

Newly enhanced, the ODB data model hosts tables for differential gene expression analysis results. But there is no loader provided to populate result set to these tables. These tables include:

W_EHA_RSLT_DIFF_EXP

The main table used to store results from differential expression files.

W_EHA_RSLT_DXP_ANLYS

Stores a listing of differential analysis result-sets loaded.

W_EHA_RSLT_DXP_ANLYS_MD

Stores metadata for differential expression analysis result-sets.

W_EHA_RSLT_DXP_GRP

Stores and describes a list of differential expression groups of specimens.

W_EHA_RSLT_DXP_GRP_SPEC

Links specimens to differential expression groups.

1.4.3 Table for Logging

All loaders and procedures created in ODB output log records to a single table.

W_EHA_RSLT_LOG

This table stores logging information from all loaders and jobs. The column RESULT_ TYPE_NAME specifies the loader populating a given logging record. Each record stores species, specimen, datasource, OS user, host, and etl_proc_wid details taken from a loader run. The LOG_LEVEL column stores the logging level pertaining to a specific record. The log record includes details of record that caused a log entry, error info or trace fields, and a log summary field.