<?xml version="1.0" encoding="ISO-8859-1"?><article xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance">
<front>
<journal-meta>
<journal-id>2011-0839</journal-id>
<journal-title><![CDATA[Universitas Medica]]></journal-title>
<abbrev-journal-title><![CDATA[Univ. Med.]]></abbrev-journal-title>
<issn>2011-0839</issn>
<publisher>
<publisher-name><![CDATA[Pontificia Universidad Javeriana]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S2011-08392020000200006</article-id>
<article-id pub-id-type="doi">10.11144/javeriana.umed61-2.sngs</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Secuenciación de nueva generación (NGS) de ADN: presente y futuro en la práctica clínica]]></article-title>
<article-title xml:lang="en"><![CDATA[DNA Next-Generation Sequencing (NGS): Present and Future in Clinical Practice]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Rubio]]></surname>
<given-names><![CDATA[Santiago]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Pacheco-Orozco]]></surname>
<given-names><![CDATA[Rafael Adrián]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Milena Gómez]]></surname>
<given-names><![CDATA[Ana]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Perdomo]]></surname>
<given-names><![CDATA[Sandra]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[García-Robles]]></surname>
<given-names><![CDATA[Reggie]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af3">
<institution><![CDATA[,Universidad El Bosque  ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af1">
<institution><![CDATA[,Universidad El Bosque  ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Pontificia Universidad Javeriana  ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af4">
<institution><![CDATA[,Universidad El Bosque  ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af5">
<institution><![CDATA[,Universidad El Bosque  ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>Colombia</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>06</month>
<year>2020</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>06</month>
<year>2020</year>
</pub-date>
<volume>61</volume>
<numero>2</numero>
<fpage>49</fpage>
<lpage>63</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_arttext&amp;pid=S2011-08392020000200006&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_abstract&amp;pid=S2011-08392020000200006&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_pdf&amp;pid=S2011-08392020000200006&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[Resumen  Introducción: El término secuenciación de nueva generación (NGS) hace referencia a las tecnologías diseñadas para analizar gran cantidad de ADN de forma masiva y paralela. En esta revisión se abordan los conceptos básicos de estas tecnologías, las consideraciones de su uso clínico actual y perspectivas a futuro.  Desarrollo: Las pruebas basadas en NGS han revolucionado el estudio de los genomas, pues permiten la lectura de millones de secuencias de ADN de forma masiva y paralela en un menor lapso y a menor costo por base. Estas pruebas incluyen la secuenciación de panel de genes, la secuenciación completa del exoma y la secuenciación completa del genoma. El análisis de sus resultados es complejo y requiere un proceso bioinformático y clínico exhaustivo para su adecuada interpretación. Las limitaciones de las pruebas NGS incluyen aspectos técnicos como cobertura, profundidad y longitud de las secuencias, las cuales se pueden solventar implementando buenas prácticas de laboratorio.  Conclusiones: Las pruebas basadas en la secuenciación por NGS son herramientas diagnósticas que deben partir de una aproximación clínica adecuada para su uso razonado, correcta interpretación y toma de decisiones acertadas. Es de gran trascendencia que los médicos tengan la información básica para poder solicitar e interpretar estas pruebas, dada su relevancia clínica actual.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract  Introduction: The term Next-Generation Sequencing (NGS) represents the technologies designed to analyze great amounts of DNA in a massive and parallel fashion. In this review we present the basic concepts of NGS technologies, the considerations for its current use and future perspectives.  Development: NGS-based tests has revolutionized the study of the genomes as it allows the read of millions of DNA sequences massively and parallelly, in a shorter span of time and at a lesser cost per base. These tests include gene panel sequencing, whole exome sequencing and whole genome sequencing. Result analysis can be complex and requires an exhaustive clinical and bioinformatic process for an adequate interpretation. Among the limitations of NGS testing are the errors in technical aspects such as coverage, depth and read length, as well as its limited usefulness for the detection of structural alterations. These limitations can be approached implementing good laboratory practices.  Conclusions: NGS tests are diagnostic tools that must be supported by an adequate clinical approach for its reasoned use, correct interpretation and appropriate decision-making. It is of great importance that physicians acquire the basic information to be able to order and interpret these tests given their current relevance.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[secuenciación de nucleótidos de alto rendimiento]]></kwd>
<kwd lng="es"><![CDATA[análisis de secuencia de ADN]]></kwd>
<kwd lng="es"><![CDATA[mutación]]></kwd>
<kwd lng="es"><![CDATA[interpretación de variantes]]></kwd>
<kwd lng="en"><![CDATA[high-throughput nucleotide sequencing]]></kwd>
<kwd lng="en"><![CDATA[sequence analysis]]></kwd>
<kwd lng="en"><![CDATA[DNA]]></kwd>
<kwd lng="en"><![CDATA[mutation]]></kwd>
<kwd lng="en"><![CDATA[variant interpretation]]></kwd>
</kwd-group>
</article-meta>
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