<?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>1684-1859</journal-id>
<journal-title><![CDATA[Revista Cubana de Informática Médica]]></journal-title>
<abbrev-journal-title><![CDATA[RCIM]]></abbrev-journal-title>
<issn>1684-1859</issn>
<publisher>
<publisher-name><![CDATA[Universidad de Ciencias Médicas de La Habana]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S1684-18592023000100016</article-id>
<title-group>
<article-title xml:lang="en"><![CDATA[Unleashing the Power of MutationTaster2 and MutationTaster2021: The Machine Learning Approach to Genetic Variant Analysis]]></article-title>
<article-title xml:lang="es"><![CDATA[Desencadenando el poder de MutationTaster2 y MutationTaster2021: el enfoque de aprendizaje automático para el análisis de variantes genéticas]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Datta]]></surname>
<given-names><![CDATA[Neelabh]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Department of Biochemistry Asutosh College (Affiliated to University of Calcutta) ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>India</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>06</month>
<year>2023</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>06</month>
<year>2023</year>
</pub-date>
<volume>15</volume>
<numero>1</numero>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_arttext&amp;pid=S1684-18592023000100016&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_abstract&amp;pid=S1684-18592023000100016&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_pdf&amp;pid=S1684-18592023000100016&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="en"><p><![CDATA[ABSTRACT MutationTaster is a widely used web-based tool that predicts the functional impact of genetic variants. In recent years, the software has undergone significant improvements, leading to the development of MutationTaster2 and MutationTaster2021. The main difference between these two versions is the use of updated reference datasets and an improved algorithm for variant classification. MutationTaster2 utilizes the dbNSFP database, while MutationTaster2021 incorporates gnomAD and ClinVar data. Both versions employ a machine learning approach that combines multiple features to predict variant pathogenicity, including evolutionary conservation, physical properties of amino acid changes, and the potential effect on protein function. The output of MutationTaster is a score indicating the likelihood of a variant being disease causing, with a high score indicating a high likelihood of pathogenicity. Overall, MutationTaster2 and MutationTaster2021 represent valuable tools for researchers and clinicians in the field of genetic variant analysis, providing accurate and efficient predictions of variant pathogenicity.]]></p></abstract>
<abstract abstract-type="short" xml:lang="es"><p><![CDATA[RESUMEN MutationTaster es una herramienta web ampliamente utilizada que predice el impacto funcional de las variantes genéticas. En los últimos años, el software ha experimentado mejoras significativas, lo que ha llevado al desarrollo de MutationTaster2 y MutationTaster2021. La principal diferencia entre estas dos versiones es el uso de conjuntos de datos de referencia actualizados y un algoritmo mejorado para la clasificación de variantes. MutationTaster2 utiliza la base de datos dbNSFP, mientras que MutationTaster2021 incorpora datos de gnomAD y ClinVar. Ambas versiones emplean un enfoque de aprendizaje automático que combina múltiples características para predecir la patogenicidad variante, incluida la conservación evolutiva, las propiedades físicas de los cambios de aminoácidos y el efecto potencial en la función de la proteína. El resultado de MutationTaster es una puntuación que indica la probabilidad de que una variante cause una enfermedad; una puntuación alta indica una alta probabilidad de patogenicidad. En general, MutationTaster2 y MutationTaster2021 representan herramientas valiosas para investigadores y médicos en el campo del análisis de variantes genéticas, ya que proporcionan predicciones precisas y eficientes de la patogenicidad de variantes.]]></p></abstract>
<kwd-group>
<kwd lng="en"><![CDATA[MutationTaster2]]></kwd>
<kwd lng="en"><![CDATA[MutationTaster2021]]></kwd>
<kwd lng="en"><![CDATA[ExAC]]></kwd>
<kwd lng="es"><![CDATA[MutationTaster2]]></kwd>
<kwd lng="es"><![CDATA[MutationTaster2021]]></kwd>
<kwd lng="es"><![CDATA[ExAC]]></kwd>
</kwd-group>
</article-meta>
</front><back>
<ref-list>
<ref id="B1">
<label>1</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Schwarz]]></surname>
<given-names><![CDATA[JM]]></given-names>
</name>
<name>
<surname><![CDATA[Cooper]]></surname>
<given-names><![CDATA[DN]]></given-names>
</name>
<name>
<surname><![CDATA[Schuelke]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Seelow]]></surname>
<given-names><![CDATA[D]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[MutationTaster2: mutation prediction for the deep-sequencing age]]></article-title>
<source><![CDATA[Nature Methods]]></source>
<year>2014</year>
<volume>11</volume>
<page-range>361-36</page-range></nlm-citation>
</ref>
<ref id="B2">
<label>2</label><nlm-citation citation-type="">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Steinhaus]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
<name>
<surname><![CDATA[Proft]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Schuelke]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Cooper]]></surname>
<given-names><![CDATA[DN]]></given-names>
</name>
<name>
<surname><![CDATA[Schwarz]]></surname>
<given-names><![CDATA[JM]]></given-names>
</name>
<name>
<surname><![CDATA[Seelow]]></surname>
<given-names><![CDATA[D]]></given-names>
</name>
</person-group>
<source><![CDATA[MutationTaster2021, Nucleic Acids Research]]></source>
<year>2021</year>
<volume>49</volume>
<numero>W1</numero>
<issue>W1</issue>
<page-range>W446-51</page-range></nlm-citation>
</ref>
<ref id="B3">
<label>3</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Adzhubei]]></surname>
<given-names><![CDATA[IA]]></given-names>
</name>
<name>
<surname><![CDATA[Schmidt]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Peshkin]]></surname>
<given-names><![CDATA[L]]></given-names>
</name>
<name>
<surname><![CDATA[Ramensky]]></surname>
<given-names><![CDATA[VE]]></given-names>
</name>
<name>
<surname><![CDATA[Gerasimova]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Bork]]></surname>
<given-names><![CDATA[P]]></given-names>
</name>
<name>
<surname><![CDATA[Kondrashov]]></surname>
<given-names><![CDATA[AS]]></given-names>
</name>
<name>
<surname><![CDATA[Sunyaev]]></surname>
<given-names><![CDATA[SR]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[A method and server for predicting damaging missense mutations]]></article-title>
<source><![CDATA[Nature methods]]></source>
<year>2010</year>
<volume>7</volume>
<numero>4</numero>
<issue>4</issue>
<page-range>248-9</page-range></nlm-citation>
</ref>
<ref id="B4">
<label>4</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Ng]]></surname>
<given-names><![CDATA[PC]]></given-names>
</name>
<name>
<surname><![CDATA[Henikoff]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Predicting deleterious amino acid substitutions]]></article-title>
<source><![CDATA[Genome Res]]></source>
<year>2001</year>
<volume>11</volume>
<page-range>863-74</page-range></nlm-citation>
</ref>
<ref id="B5">
<label>5</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Reva]]></surname>
<given-names><![CDATA[B]]></given-names>
</name>
<name>
<surname><![CDATA[Antipin]]></surname>
<given-names><![CDATA[Y]]></given-names>
</name>
<name>
<surname><![CDATA[Sander]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Predicting the functional impact of protein mutations: application to cancer genomics]]></article-title>
<source><![CDATA[Nucleic acids research]]></source>
<year>2011</year>
<volume>39</volume>
<numero>17</numero>
<issue>17</issue>
</nlm-citation>
</ref>
<ref id="B6">
<label>6</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Hombach]]></surname>
<given-names><![CDATA[D]]></given-names>
</name>
<name>
<surname><![CDATA[Schuelke]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Knierim]]></surname>
<given-names><![CDATA[E]]></given-names>
</name>
<name>
<surname><![CDATA[Ehmke]]></surname>
<given-names><![CDATA[N]]></given-names>
</name>
<name>
<surname><![CDATA[Schwarz]]></surname>
<given-names><![CDATA[JM]]></given-names>
</name>
<name>
<surname><![CDATA[Fischer-Zirnsak]]></surname>
<given-names><![CDATA[B]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[MutationDistiller: user-driven identification of pathogenic DNA variants]]></article-title>
<source><![CDATA[Nucleic Acids Research]]></source>
<year>2019</year>
<volume>47</volume>
<numero>W1</numero>
<issue>W1</issue>
<page-range>W114-20</page-range></nlm-citation>
</ref>
<ref id="B7">
<label>7</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Lek]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Karczewski]]></surname>
<given-names><![CDATA[KJ]]></given-names>
</name>
<name>
<surname><![CDATA[Minikel]]></surname>
<given-names><![CDATA[EV]]></given-names>
</name>
<name>
<surname><![CDATA[Samocha]]></surname>
<given-names><![CDATA[KE]]></given-names>
</name>
<name>
<surname><![CDATA[Banks]]></surname>
<given-names><![CDATA[E]]></given-names>
</name>
<name>
<surname><![CDATA[Fennell]]></surname>
<given-names><![CDATA[T]]></given-names>
</name>
<name>
<surname><![CDATA[O'Donnell-Luria]]></surname>
<given-names><![CDATA[AH]]></given-names>
</name>
<name>
<surname><![CDATA[Ware]]></surname>
<given-names><![CDATA[JS]]></given-names>
</name>
<name>
<surname><![CDATA[Hill]]></surname>
<given-names><![CDATA[AJ]]></given-names>
</name>
<name>
<surname><![CDATA[Cummings]]></surname>
<given-names><![CDATA[BB]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Exome Aggregation Consortium . Analysis of protein-coding genetic variation in 60,706 humans]]></article-title>
<source><![CDATA[Nature]]></source>
<year>2016</year>
<volume>536</volume>
<numero>7616</numero>
<issue>7616</issue>
<page-range>285-91</page-range></nlm-citation>
</ref>
<ref id="B8">
<label>8</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Karczewski]]></surname>
<given-names><![CDATA[KJ]]></given-names>
</name>
<name>
<surname><![CDATA[Francioli]]></surname>
<given-names><![CDATA[LC]]></given-names>
</name>
<name>
<surname><![CDATA[Tiao]]></surname>
<given-names><![CDATA[G]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[The mutational constraint spectrum quantified from variation in 141,456 humans]]></article-title>
<source><![CDATA[Nature]]></source>
<year></year>
<volume>581</volume>
<numero>2020</numero>
<issue>2020</issue>
<page-range>434-43</page-range></nlm-citation>
</ref>
<ref id="B9">
<label>9</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Auton]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Brooks]]></surname>
<given-names><![CDATA[LD]]></given-names>
</name>
<name>
<surname><![CDATA[Durbin]]></surname>
<given-names><![CDATA[RM]]></given-names>
</name>
<name>
<surname><![CDATA[Garrison]]></surname>
<given-names><![CDATA[EP]]></given-names>
</name>
<name>
<surname><![CDATA[Kang]]></surname>
<given-names><![CDATA[HM]]></given-names>
</name>
<name>
<surname><![CDATA[Korbel]]></surname>
<given-names><![CDATA[JO]]></given-names>
</name>
<name>
<surname><![CDATA[Marchini]]></surname>
<given-names><![CDATA[JL]]></given-names>
</name>
<name>
<surname><![CDATA[McCarthy]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[McVean]]></surname>
<given-names><![CDATA[GA]]></given-names>
</name>
<name>
<surname><![CDATA[Abecasis]]></surname>
<given-names><![CDATA[G]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[1000 Genomes Project Consortium, R. A global reference for human genetic variation]]></article-title>
<source><![CDATA[Nature]]></source>
<year>2015</year>
<volume>526</volume>
<numero>7571</numero>
<issue>7571</issue>
<page-range>68-74</page-range></nlm-citation>
</ref>
<ref id="B10">
<label>10</label><nlm-citation citation-type="">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Ho]]></surname>
<given-names><![CDATA[TK]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Random decision forests]]></article-title>
<source><![CDATA[Proceedings of 3rd international conference on document analysis and recognition]]></source>
<year>1995</year>
<volume>1</volume>
<page-range>278-82</page-range></nlm-citation>
</ref>
<ref id="B11">
<label>11</label><nlm-citation citation-type="">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Yeo]]></surname>
<given-names><![CDATA[G]]></given-names>
</name>
<name>
<surname><![CDATA[Burge]]></surname>
<given-names><![CDATA[CB]]></given-names>
</name>
</person-group>
<source><![CDATA[Maximum Entropy Modeling of Short Sequence Motifs with Applications to RNA Splicing Signals, RECOMB]]></source>
<year>2003</year>
</nlm-citation>
</ref>
<ref id="B12">
<label>12</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Kircher]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Witten DM]]></surname>
<given-names><![CDATA[JP]]></given-names>
</name>
<name>
<surname><![CDATA[O'Roak]]></surname>
<given-names><![CDATA[BJ]]></given-names>
</name>
<name>
<surname><![CDATA[Cooper]]></surname>
<given-names><![CDATA[GM]]></given-names>
</name>
<name>
<surname><![CDATA[Shendure]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[A general framework for estimating the relative pathogenicity of human genetic variants]]></article-title>
<source><![CDATA[Nature genetics]]></source>
<year>2014</year>
<volume>46</volume>
<numero>3</numero>
<issue>3</issue>
<page-range>310-5</page-range></nlm-citation>
</ref>
</ref-list>
</back>
</article>
