<?xml version="1.0" encoding="utf-8"?>
<export-example>
  <doc>
    <id>9689</id>
    <completedYear/>
    <publishedYear>2024</publishedYear>
    <thesisYearAccepted/>
    <language>eng</language>
    <pageFirst/>
    <pageLast/>
    <pageNumber/>
    <edition/>
    <issue>11838</issue>
    <volume>14</volume>
    <type>article</type>
    <publisherName/>
    <publisherPlace/>
    <creatingCorporation/>
    <contributingCorporation/>
    <belongsToBibliography>0</belongsToBibliography>
    <completedDate>2024-05-23</completedDate>
    <publishedDate>--</publishedDate>
    <thesisDateAccepted>--</thesisDateAccepted>
    <title language="eng">An interpretable data-driven prediction model to anticipate scoliosis in spinal muscular atrophy in the era of (gene-) therapies</title>
    <abstract language="eng">5q-spinal muscular atrophy (SMA) is a neuromuscular disorder (NMD) that has become one of the first 5% treatable rare diseases. The efficacy of new SMA therapies is creating a dynamic SMA patient landscape, where disease progression and scoliosis development play a central role, however, remain difficult to anticipate. New approaches to anticipate disease progression and associated sequelae will be needed to continuously provide these patients the best standard of care. Here we developed an interpretable machine learning (ML) model that can function as an assistive tool in the anticipation of SMA-associated scoliosis based on disease progression markers. We collected longitudinal data from 86 genetically confirmed SMA patients. We selected six features routinely assessed over time to train a random forest classifier. The model achieved a mean accuracy of 0.77 (SD 0.2) and an average ROC AUC of 0.85 (SD 0.17). For class 1 ‘scoliosis’ the average precision was 0.84 (SD 0.11), recall 0.89 (SD 0.22), F1-score of 0.85 (SD 0.17), respectively. Our trained model could predict scoliosis using selected disease progression markers and was consistent with the radiological measurements. During post validation, the model could predict scoliosis in patients who were unseen during training. We also demonstrate that rare disease data sets can be wrangled to build predictive ML models. Interpretable ML models can function as assistive tools in a changing disease landscape and have the potential to democratize expertise that is otherwise clustered at specialized centers.</abstract>
    <parentTitle language="eng">Scientific Reports</parentTitle>
    <identifier type="doi">10.1038/s41598-024-62720-w</identifier>
    <enrichment key="PeerReviewed">yes</enrichment>
    <enrichment key="SourceTitle">Scientific Reports</enrichment>
    <enrichment key="AcceptedDate">2024.05.23</enrichment>
    <enrichment key="opus.source">publish</enrichment>
    <author>Tu-Lan Vu-Han</author>
    <submitter> Sunkara</submitter>
    <author>Rodrigo Bermudez Schettino</author>
    <author>Claudia Weiß</author>
    <author>Carsten Perka</author>
    <author>Tobias Winkler</author>
    <author>Vikram Sunkara</author>
    <author>Matthias Pumberger</author>
    <collection role="persons" number="sunkara">Sunkara, Vikram</collection>
    <collection role="projects" number="BIFOLD">BIFOLD</collection>
    <collection role="institutes" number="VDcC">Visual and Data-centric Computing</collection>
    <collection role="persons" number="vu-han">Vu-Han, Tu-Lan</collection>
  </doc>
  <doc>
    <id>9896</id>
    <completedYear/>
    <publishedYear>2025</publishedYear>
    <thesisYearAccepted/>
    <language>eng</language>
    <pageFirst>e13599</pageFirst>
    <pageLast/>
    <pageNumber/>
    <edition/>
    <issue>1</issue>
    <volume>16</volume>
    <type>article</type>
    <publisherName/>
    <publisherPlace/>
    <creatingCorporation/>
    <contributingCorporation/>
    <belongsToBibliography>0</belongsToBibliography>
    <completedDate>2024-12-05</completedDate>
    <publishedDate>--</publishedDate>
    <thesisDateAccepted>--</thesisDateAccepted>
    <title language="eng">Feature Engineering for the Prediction of Scoliosis in 5q‐Spinal Muscular Atrophy</title>
    <parentTitle language="eng">Journal of Cachexia, Sarcopenia and Muscle</parentTitle>
    <identifier type="doi">10.1002/jcsm.13599</identifier>
    <enrichment key="PeerReviewed">yes</enrichment>
    <enrichment key="opus.source">publish</enrichment>
    <author>Tu‐Lan Vu‐Han</author>
    <submitter>Christoph Spiegel</submitter>
    <author>Vikram Sunkara</author>
    <author>Rodrigo Bermudez‐Schettino</author>
    <author>Jakob Schwechten</author>
    <author>Robin Runge</author>
    <author>Carsten Perka</author>
    <author>Tobias Winkler</author>
    <author>Sebastian Pokutta</author>
    <author>Claudia Weiß</author>
    <author>Matthias Pumberger</author>
    <collection role="persons" number="sunkara">Sunkara, Vikram</collection>
    <collection role="projects" number="no-project">no-project</collection>
    <collection role="persons" number="pokutta">Pokutta, Sebastian</collection>
    <collection role="institutes" number="ais2t">AI in Society, Science, and Technology</collection>
  </doc>
</export-example>
