reference-database

A database reference for the consensus sequence blocks included in the 
HML document.
      
Each reference-database may have 1 or more reference-sequence definitions.
      
Examples:Children:
        --------
        - reference-sequence: (required, qty: 1 or more) Reference sequence for this database.

        Attribute:
        ---------  
        - name:            (optional) Name for this database.
        - description:     (optional) Description of this database reference.
        - version:         (optional) Version of this reference database.
        - availability:    (required) Defines how this reference database is 
                           available ("public", "private", "none").
        - curated:         (optional) "true" if curated, "false" otherwise.
        - uri:             External reference for this database.

Element Information

Model

Attributes

QName Type Fixed Default Use Inheritable Annotation
availability restriction of xs:string required
curated xs:boolean true optional
description restriction of xs:string optional
name restriction of xs:string optional
uri xs:anyURI optional
version restriction of xs:string optional

Used By

Complex Type consensus-sequence

Source

<xs:element name="reference-database">
  <xs:annotation>
    <xs:documentation>A database reference for the consensus sequence blocks included in the HML document. Each reference-database may have 1 or more reference-sequence definitions. Examples:
      <!-- 
      Genome Reference Consortium:
        <reference-database name="GRCh38.p1" 
                            description="Genome Reference Consortium (GRC)"
                            version="GRCh38.p1"
                            availability="public"
                            curated="true"
                            uri="http://www.ncbi.nlm.nih.gov/projects/genome/assembly/grc/human">

      IMGT/HLA:
        <reference-database name="imgt-hla" 
                            description="IMGT/HLA Database"
                            version="3.18.0"
                            availability="public"
                            curated="true"
                            uri="http://www.ebi.ac.uk/ipd/imgt/hla">

      KIR:
        <reference-database name="ipd-kir"
                            description="IPD KIR Database"
                            version="2.5.0"
                            availability="public"
                            curated="true"
                            uri="http://www.ebi.ac.uk/ipd/kir">

      No database reference:
        <reference-database availability="none">
      -->Children: -------- - reference-sequence: (required, qty: 1 or more) Reference sequence for this database. Attribute: --------- - name: (optional) Name for this database. - description: (optional) Description of this database reference. - version: (optional) Version of this reference database. - availability: (required) Defines how this reference database is available ("public", "private", "none"). - curated: (optional) "true" if curated, "false" otherwise. - uri: External reference for this database.</xs:documentation>
  </xs:annotation>
  <xs:complexType>
    <xs:sequence>
      <xs:element name="reference-sequence" minOccurs="1" maxOccurs="unbounded">
        <xs:annotation>
          <xs:documentation>A sequence reference for the consensus sequence blocks included in the HML document, associated with a reference-database. The reference-sequence id must be document-unique and is referenced by consensus-sequence-block elements via the required reference-sequence-id attribute. Examples:
            <!-- 
            Genome Reference Consortium:
              <reference-database ... >
                  <reference-sequence id="ref1"
                                  name="HSCHR6_MHC_MCF_CTG1" 
                                  start="0"
                                  end="4827813"
                                  accession="GL000254.2"
                                  uri="http://www.ncbi.nlm.nih.gov/nuccore/GL000254.2" />
                  <reference-sequence id="2" ... />
              </reference-daatabase>

            IMGT/HLA:
              <reference-database ... >
                  <reference-sequence id="ref3"
                                  name="HLA-A*01:01:01:01"
                                  start="0"
                                  end="3053"
                                  accession="HLA00001"
                                  uri="http://www.ebi.ac.uk/Tools/dbfetch/dbfetch?db=imgthla;id=HLA00001" />
                  <reference-sequence id="4" ... />
              </reference-daatabase>

            No database reference:
              <reference-database availability="none">
                  <reference-sequence id="ref0"/>
              </reference-database>
            -->Attribute: --------- - id: (required) Unique reference for this database/sequence combination which is referred to in each consensus-sequence-block. *Note: XML 'ID' type must begin with a non-symbol, non-digit, alphabetic character. - name: - description: (optional) Description of this database reference. - start: (required) Start position of a targeted region on contig, 0-based or space-counted coordinate system, closed-open range - end: (required) End position of a targeted region on contig, 0-based or space-counted coordinate system, closed-open range - accession: (optional) - strand: (optional) String value (eg. one of "-1", "1", "-", "+"); defaults to "+" if unspecified - uri: External reference for this database.</xs:documentation>
        </xs:annotation>
        <xs:complexType>
          <xs:attribute name="id" type="xs:ID" use="required"/>
          <xs:attribute name="name" use="optional">
            <xs:simpleType>
              <xs:restriction base="xs:string">
                <xs:minLength value="1"/>
              </xs:restriction>
            </xs:simpleType>
          </xs:attribute>
          <xs:attribute name="description" use="optional">
            <xs:simpleType>
              <xs:restriction base="xs:string">
                <xs:minLength value="1"/>
              </xs:restriction>
            </xs:simpleType>
          </xs:attribute>
          <xs:attribute name="start" type="hmlns:position-type" use="optional"/>
          <xs:attribute name="end" type="hmlns:position-type" use="optional"/>
          <xs:attribute name="accession" use="optional">
            <xs:simpleType>
              <xs:restriction base="xs:string">
                <xs:minLength value="1"/>
              </xs:restriction>
            </xs:simpleType>
          </xs:attribute>
          <xs:attribute name="strand" use="optional">
            <xs:simpleType>
              <xs:restriction base="xs:string">
                <xs:enumeration value="-1"/>
                <xs:enumeration value="1"/>
                <xs:enumeration value="+"/>
                <xs:enumeration value="-"/>
              </xs:restriction>
            </xs:simpleType>
          </xs:attribute>
          <xs:attribute name="uri" type="xs:anyURI" use="optional"/>
        </xs:complexType>
      </xs:element>
    </xs:sequence>
    <!-- Reference Database attributes: -->
    <xs:attribute name="name" use="optional">
      <xs:simpleType>
        <xs:restriction base="xs:string">
          <xs:minLength value="1"/>
        </xs:restriction>
      </xs:simpleType>
    </xs:attribute>
    <xs:attribute name="description" use="optional">
      <xs:simpleType>
        <xs:restriction base="xs:string">
          <xs:minLength value="1"/>
        </xs:restriction>
      </xs:simpleType>
    </xs:attribute>
    <xs:attribute name="version" use="optional">
      <xs:simpleType>
        <xs:restriction base="xs:string">
          <xs:minLength value="1"/>
        </xs:restriction>
      </xs:simpleType>
    </xs:attribute>
    <xs:attribute name="availability" use="required">
      <xs:simpleType>
        <xs:restriction base="xs:string">
          <xs:enumeration value="public"/>
          <xs:enumeration value="private"/>
          <xs:enumeration value="none"/>
          <xs:enumeration value="PUBLIC"/>
          <xs:enumeration value="PRIVATE"/>
          <xs:enumeration value="NONE"/>
        </xs:restriction>
      </xs:simpleType>
    </xs:attribute>
    <xs:attribute name="curated" type="xs:boolean" use="optional" default="true"/>
    <xs:attribute name="uri" type="xs:anyURI" use="optional"/>
  </xs:complexType>
</xs:element>

Sample

< consensus-sequence xmlns = "http://schemas.nmdp.org/spec/hml/1.0" date = "2014-11-02" >

< reference-database name = "imgt-hla" description = "IMGT/HLA Database" version = "3.18.0" availability = "public" curated = "true" uri = "http://www.ebi.ac.uk/ipd/imgt/hla" >

< reference-sequence id = "ref1" name = "HLA-A*01:01:01:01" start = "0" end = "3053" accession = "HLA00001" uri = "http://www.ebi.ac.uk/Tools/dbfetch/dbfetch?db=imgthla;id=HLA00001" />

</ reference-database>

< consensus-sequence-block reference-sequence-id = "ref1" start = "29942124" end = "29944020" strand = "1" phase-set = "1" continuity = "true" expected-copy-number = "1" description = "HLA-A exon 1" >

< sequence>

TTTCTTGGAGCAGGTTAAACATGAGTGTCATTTCTTCAACGGGACGGAGCGGGTGCGGTTCCTGGACA GATACTTCTATCACCAAGAGGAGTACGTGCGCTTCGACAGCGACGTGGGGGAGTACCGGGCGGTGACG GAGCTGGGGCGGCCTAGCGCCGAGTACTGGAACAGCCAGAAGGACCTCCTGGAGCAGAGGCGGGCCGA GGTGGACACCTACTGCAGACACAACTACGGGGTTGTGGAGAGCTTCACA

</ sequence>

< variant reference-bases = "T" alternate-bases = "C" start = "29942937" end = "29943001" >

< variant-effect term = "missense_variant" />

</ variant>

< variant reference-bases = "CG" alternate-bases = "C" start = "29942999" end = "29943025" >

< variant-effect term = "frameshift_variant" />

</ variant>

< variant reference-bases = "A" alternate-bases = "AT" start = "29942760" end = "29942852" >

< variant-effect term = "stop_gained" />

</ variant>

< sequence-quality sequence-start = "29942937" sequence-end = "29943001" quality-score = "1.0" />