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  <front>
    <journal-meta>
      <journal-id journal-id-type="publisher-id">109</journal-id>
      <journal-id journal-id-type="index">urn:lsid:arphahub.com:pub:3dc5f44e-8666-58db-bc76-a455210e8891</journal-id>
      <journal-title-group>
        <journal-title xml:lang="en">JUCS - Journal of Universal Computer Science</journal-title>
        <abbrev-journal-title xml:lang="en">jucs</abbrev-journal-title>
      </journal-title-group>
      <issn pub-type="ppub">0948-695X</issn>
      <issn pub-type="epub">0948-6968</issn>
      <publisher>
        <publisher-name>Journal of Universal Computer Science</publisher-name>
      </publisher>
    </journal-meta>
    <article-meta>
      <article-id pub-id-type="doi">10.3897/jucs.112797</article-id>
      <article-id pub-id-type="publisher-id">112797</article-id>
      <article-categories>
        <subj-group subj-group-type="heading">
          <subject>Research Article</subject>
        </subj-group>
        <subj-group subj-group-type="scientific_subject">
          <subject>B.8 - PERFORMANCE AND RELIABILITY</subject>
          <subject>E.2 - DATA STORAGE REPRESENTATIONS</subject>
          <subject>G.1.0 - General</subject>
          <subject>G.1.10 - Applications</subject>
          <subject>G.3 - PROBABILITY AND STATISTICS</subject>
          <subject>H.3 - INFORMATION STORAGE AND RETRIEVAL</subject>
          <subject>H.4.2 - Types of Systems</subject>
          <subject>I.6.4 - Model Validation and Analysis</subject>
          <subject>J.3 - LIFE AND MEDICAL SCIENCES</subject>
        </subj-group>
      </article-categories>
      <title-group>
        <article-title>Towards a Traceable Data Model Accommodating Bounded Uncertainty for DST Based Computation of <italic>BRCA1/2</italic> Mutation Probability With Age</article-title>
      </title-group>
      <contrib-group content-type="authors">
        <contrib contrib-type="author" corresp="yes">
          <name name-style="western">
            <surname>Gillner</surname>
            <given-names>Lorenz</given-names>
          </name>
          <email xlink:type="simple">lorenz.gillner@hs-wismar.de</email>
          <uri content-type="orcid">https://orcid.org/0009-0007-8244-5810</uri>
          <xref ref-type="aff" rid="A1">1</xref>
        </contrib>
        <contrib contrib-type="author" corresp="yes">
          <name name-style="western">
            <surname>Auer</surname>
            <given-names>Ekaterina</given-names>
          </name>
          <email xlink:type="simple">ekaterina.auer@hs-wismar.de</email>
          <uri content-type="orcid">https://orcid.org/0000-0003-4059-3982</uri>
          <xref ref-type="aff" rid="A1">1</xref>
        </contrib>
      </contrib-group>
      <aff id="A1">
        <label>1</label>
        <addr-line content-type="verbatim">University of Applied Sciences Wismar, Wismar, Germany</addr-line>
        <institution>University of Applied Sciences Wismar</institution>
        <addr-line content-type="city">Wismar</addr-line>
        <country>Germany</country>
      </aff>
      <author-notes>
        <fn fn-type="corresp">
          <p>Corresponding authors: Lorenz Gillner (<email xlink:type="simple">lorenz.gillner@hs-wismar.de</email>), Ekaterina Auer (<email xlink:type="simple">ekaterina.auer@hs-wismar.de</email>).</p>
        </fn>
        <fn fn-type="edited-by">
          <p>Academic editor: </p>
        </fn>
      </author-notes>
      <pub-date pub-type="collection">
        <year>2023</year>
      </pub-date>
      <pub-date pub-type="epub">
        <day>28</day>
        <month>11</month>
        <year>2023</year>
      </pub-date>
      <volume>29</volume>
      <issue>11</issue>
      <fpage>1361</fpage>
      <lpage>1384</lpage>
      <uri content-type="arpha" xlink:href="http://openbiodiv.net/BAD6723A-2616-5450-873A-90853F3009D7">BAD6723A-2616-5450-873A-90853F3009D7</uri>
      <uri content-type="zenodo_dep_id" xlink:href="https://zenodo.org/record/0">0</uri>
      <history>
        <date date-type="received">
          <day>19</day>
          <month>05</month>
          <year>2023</year>
        </date>
        <date date-type="accepted">
          <day>30</day>
          <month>09</month>
          <year>2023</year>
        </date>
      </history>
      <permissions>
        <copyright-statement>Lorenz Gillner, Ekaterina Auer</copyright-statement>
        <license license-type="creative-commons-attribution" xlink:href="https://creativecommons.org/licenses/by-nd/4.0/" xlink:type="simple">
          <license-p>This is an open access article distributed under the terms of the Creative Commons Attribution License (CC BY-ND 4.0). This license allows reusers to copy and distribute the material in any medium or format in unadapted form only, and only so long as attribution is given to the creator. The license allows for commercial use.</license-p>
        </license>
      </permissions>
      <abstract>
        <label>Abstract</label>
        <p>In this paper, we describe the requirements for traceable open-source data retrieval in the context of computation of <italic>BRCA1/2</italic> mutation probabilities (mutations in two tumor-suppressor genes responsible for hereditary BReast or/and ovarian CAncer). We show how such data can be used to develop a Dempster-Shafer model for computing the probability of <italic>BRCA1/2</italic> mutations enhanced by taking into account the actual age of a patient or a family member in an appropriate way even if it is not known exactly. The model is compared with PENN II and BOADICEA (based on undisclosed data), two established platforms for this purpose accessible online, as well as with our own previous models. A proof-of-concept implementation shows that set-based techniques are able to provide better information about mutation probabilities, simultaneously highlighting the necessity for ground truth data of high quality.</p>
      </abstract>
    </article-meta>
  </front>
</article>
