<oai_dc:dc xmlns:dc="http://purl.org/dc/elements/1.1/" xmlns:oai_dc="http://www.openarchives.org/OAI/2.0/oai_dc/" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" xsi:schemaLocation="http://www.openarchives.org/OAI/2.0/oai_dc/ http://www.openarchives.org/OAI/2.0/oai_dc.xsd">
  <dc:creator>Makrythanasis P</dc:creator>
  <dc:creator>Antonarakis SE</dc:creator>
  <dc:date>2012</dc:date>
  <dc:description xmlns:ns0="xml" ns0:lang="en">High-throughput sequencing has drastically changed the research of genes responsible for genetic disorders and is now gradually introduced as an additional genetic diagnostic testing in clinical practice. The current debates on the emerging technical, medical and ethical issues as well as the potential optimum use of the available technology are discussed.</dc:description>
  <dc:format>application/pdf</dc:format>
  <dc:identifier>https://sonar.ch/global/documents/34244</dc:identifier>
  <dc:language>eng</dc:language>
  <dc:relation>info:eu-repo/semantics/altIdentifier/doi/10.1159/000343941</dc:relation>
  <dc:relation>info:eu-repo/semantics/altIdentifier/pmid/23293577</dc:relation>
  <dc:rights>info:eu-repo/semantics/openAccess</dc:rights>
  <dc:source>Molecular syndromology. - 2012</dc:source>
  <dc:subject xmlns:ns1="xml" ns1:lang="en">Diagnosis</dc:subject>
  <dc:subject xmlns:ns2="xml" ns2:lang="en">Ethical aspects</dc:subject>
  <dc:subject xmlns:ns3="xml" ns3:lang="en">Genetic disorders</dc:subject>
  <dc:subject xmlns:ns4="xml" ns4:lang="en">Next-generation sequencing</dc:subject>
  <dc:subject xmlns:ns5="xml" ns5:lang="en">Prenatal diagnosis</dc:subject>
  <dc:title xmlns:ns6="xml" ns6:lang="en">High-throughput sequencing and rare genetic diseases.</dc:title>
  <dc:type>http://purl.org/coar/resource_type/c_6501</dc:type>
</oai_dc:dc>