<?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>0872-0754</journal-id>
<journal-title><![CDATA[Nascer e Crescer]]></journal-title>
<abbrev-journal-title><![CDATA[Nascer e Crescer]]></abbrev-journal-title>
<issn>0872-0754</issn>
<publisher>
<publisher-name><![CDATA[Centro Hospitalar do Porto]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S0872-07542023000300195</article-id>
<article-id pub-id-type="doi">10.25753/birthgrowthmj.v32.i3.27586</article-id>
<title-group>
<article-title xml:lang="en"><![CDATA[Decoding the Human Genome]]></article-title>
<article-title xml:lang="pt"><![CDATA[Descodificando o Genoma Humano]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Rocha]]></surname>
<given-names><![CDATA[Diogo Fernandes da]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Rocha]]></surname>
<given-names><![CDATA[Gustavo]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Louro]]></surname>
<given-names><![CDATA[Pedro]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
<xref ref-type="aff" rid="Aaf"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Centro Hospitalar Universitário de São João Medical Genetics Service ]]></institution>
<addr-line><![CDATA[Porto ]]></addr-line>
<country>Portugal</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Universidade da Beira Interior Faculty of Health Sciences ]]></institution>
<addr-line><![CDATA[Covilhã ]]></addr-line>
<country>Portugal</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>09</month>
<year>2023</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>09</month>
<year>2023</year>
</pub-date>
<volume>32</volume>
<numero>3</numero>
<fpage>195</fpage>
<lpage>204</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.pt/scielo.php?script=sci_arttext&amp;pid=S0872-07542023000300195&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.pt/scielo.php?script=sci_abstract&amp;pid=S0872-07542023000300195&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.pt/scielo.php?script=sci_pdf&amp;pid=S0872-07542023000300195&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract The neonatologist is often the first clinician to identify genetic disorders without prenatal diagnosis. Technological advances in genetics over the past few decades have opened up possibilities never before imagined. Gone are the days when we could offer our patients little more than a peripheral blood karyotype. Newer methods, such as comparative genomic hybridization or Sanger sequencing and next-generation sequencing, allow a more detailed analysis of the human genome, both at the level of large rearrangements (deletions, duplications) and potentially pathogenic point variants. High-tech technologies have been useful in uncovering genes involved in diseases that have long been known to have a genetic origin, but whose etiology has remained elusive. Despite the promise of these technologies, no method is self-sufficient, and all have limitations. The aim of this review is to update clinicians on the genetic tests that are currently available and in use. Given that the first human genome was sequenced just over twenty years ago, what news will the next twenty years bring?]]></p></abstract>
<abstract abstract-type="short" xml:lang="pt"><p><![CDATA[Resumo O neonatologista é frequentemente o primeiro clínico a confrontar-se com condições genéticas não diagnosticadas no período pré-natal. Os avanços tecnológicos no campo da genética nas últimas décadas trouxeram possibilidades nunca antes imaginadas. Distantes estão os tempos em que pouco mais poderia ser oferecido aos doentes do que um cariótipo de sangue periférico. Metodologias mais recentes, como hibridização genómica comparativa ou sequenciação de Sanger e sequenciação de nova geração, permitem analisar mais detalhadamente o genoma humano, quer ao nível dos grandes rearranjos (deleções, duplicações), quer de variantes pontuais potencialmente patogénicas. Estas tecnologias de ponta têm sido úteis na descoberta de genes implicados em doenças há muito entendidas como de origem genética, mas cuja etiologia permanecia desconhecida. Apesar dos bons presságios, nenhum método é autossuficiente e todos apresentam as suas limitações. O objetivo desta revisão é atualizar os clínicos sobre os testes genéticos atualmente disponíveis e utilizados. Recordando que o primeiro genoma humano foi sequenciado há pouco mais de vinte anos, que novidades trarão os próximos vinte?]]></p></abstract>
<kwd-group>
<kwd lng="en"><![CDATA[comparative genomic hybridization]]></kwd>
<kwd lng="en"><![CDATA[DNA]]></kwd>
<kwd lng="en"><![CDATA[fluorescence in situ hybridization]]></kwd>
<kwd lng="en"><![CDATA[high-throughput nucleotide sequencing]]></kwd>
<kwd lng="en"><![CDATA[karyotype]]></kwd>
<kwd lng="en"><![CDATA[multiplex polymerase chain reaction]]></kwd>
<kwd lng="en"><![CDATA[polymerase chain reaction]]></kwd>
<kwd lng="en"><![CDATA[sequence analysis]]></kwd>
<kwd lng="pt"><![CDATA[amplificação de sonda dependente de ligação multiplex]]></kwd>
<kwd lng="pt"><![CDATA[cariótipo]]></kwd>
<kwd lng="pt"><![CDATA[hibridização genómica comparativa]]></kwd>
<kwd lng="pt"><![CDATA[hibridização in situ fluorescente]]></kwd>
<kwd lng="pt"><![CDATA[reação de polimerização em cadeia]]></kwd>
<kwd lng="pt"><![CDATA[sequenciação de nova geração]]></kwd>
<kwd lng="pt"><![CDATA[sequenciação de Sanger]]></kwd>
</kwd-group>
</article-meta>
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