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Tandem repeats discovery service (TReaDS) applied to finding novel cis-acting factors in repeat expansion diseases

Identifieur interne : 000801 ( Ncbi/Merge ); précédent : 000800; suivant : 000802

Tandem repeats discovery service (TReaDS) applied to finding novel cis-acting factors in repeat expansion diseases

Auteurs : Marco Pellegrini [Italie] ; Maria Elena Renda [Italie] ; Alessio Vecchio [Italie]

Source :

RBID : PMC:3303744

Descripteurs français

English descriptors

Abstract

Background

Tandem repeats are multiple duplications of substrings in the DNA that occur contiguously, or at a short distance, and may involve some mutations (such as substitutions, insertions, and deletions). Tandem repeats have been extensively studied also for their association with the class of repeat expansion diseases (mostly affecting the nervous system). Comparative studies on the output of different tools for finding tandem repeats highlighted significant differences among the sets of detected tandem repeats, while many authors pointed up how critical it is the right choice of parameters.

Results

In this paper we present TReaDS - Tandem Repeats Discovery Service, a tandem repeat meta search engine. TReaDS forwards user requests to several state of the art tools for finding tandem repeats and merges their outcome into a single report, providing a global, synthetic, and comparative view of the results. In particular, TReaDS allows the user to (i) simultaneously run different algorithms on the same data set, (ii) choose for each algorithm a different setting of parameters, and (iii) obtain a report that can be downloaded for further, off-line, investigations. We used TReaDS to investigate sequences associated with repeat expansion diseases.

Conclusions

By using the tool TReaDS we discover that, for 27 repeat expansion diseases out of a currently known set of 29, long fuzzy tandem repeats are covering the expansion loci. Tests with control sets confirm the specificity of this association. This finding suggests that long fuzzy tandem repeats can be a new class of cis-acting elements involved in the mechanisms leading to the expansion instability.

We strongly believe that biologists can be interested in a tool that, not only gives them the possibility of using multiple search algorithm at the same time, with the same effort exerted in using just one of the systems, but also simplifies the burden of comparing and merging the results, thus expanding our capabilities in detecting important phenomena related to tandem repeats.


Url:
DOI: 10.1186/1471-2105-13-S4-S3
PubMed: 22536970
PubMed Central: 3303744

Links toward previous steps (curation, corpus...)


Links to Exploration step

PMC:3303744

Le document en format XML

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<title>Background</title>
<p>Tandem repeats are multiple duplications of substrings in the DNA that occur contiguously, or at a short distance, and may involve some mutations (such as substitutions, insertions, and deletions). Tandem repeats have been extensively studied also for their association with the class of repeat expansion diseases (mostly affecting the nervous system). Comparative studies on the output of different tools for finding tandem repeats highlighted significant differences among the sets of detected tandem repeats, while many authors pointed up how critical it is the right choice of parameters.</p>
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<p>In this paper we present
<italic>TReaDS - Tandem Repeats Discovery Service</italic>
, a
<italic>tandem repeat meta search engine</italic>
.
<italic>TReaDS </italic>
forwards user requests to several state of the art tools for finding tandem repeats and merges their outcome into a single report, providing a global, synthetic, and comparative view of the results. In particular,
<italic>TReaDS </italic>
allows the user to (
<italic>i</italic>
) simultaneously run different algorithms on the same data set, (
<italic>ii</italic>
) choose for each algorithm a different setting of parameters, and (
<italic>iii</italic>
) obtain a report that can be downloaded for further, off-line, investigations. We used
<italic>TReaDS </italic>
to investigate sequences associated with repeat expansion diseases.</p>
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<title>Conclusions</title>
<p>By using the tool
<italic>TReaDS </italic>
we discover that, for 27 repeat expansion diseases out of a currently known set of 29,
<italic>long fuzzy tandem repeats </italic>
are covering the expansion loci. Tests with control sets confirm the specificity of this association. This finding suggests that long fuzzy tandem repeats can be a new class of cis-acting elements involved in the mechanisms leading to the expansion instability.</p>
<p>We strongly believe that biologists can be interested in a tool that, not only gives them the possibility of using multiple search algorithm at the same time, with the same effort exerted in using just one of the systems, but also simplifies the burden of comparing and merging the results, thus expanding our capabilities in detecting important phenomena related to tandem repeats.</p>
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<settlement type="city">Pise</settlement>
<region type="region" nuts="2">Toscane</region>
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<idno type="pmid">22536970</idno>
<idno type="pmc">3303744</idno>
<idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3303744</idno>
<idno type="RBID">PMC:3303744</idno>
<idno type="doi">10.1186/1471-2105-13-S4-S3</idno>
<date when="2012">2012</date>
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<title xml:lang="en" level="a" type="main">Tandem repeats discovery service (TReaDS) applied to finding novel cis-acting factors in repeat expansion diseases</title>
<author>
<name sortKey="Pellegrini, Marco" sort="Pellegrini, Marco" uniqKey="Pellegrini M" first="Marco" last="Pellegrini">Marco Pellegrini</name>
<affiliation wicri:level="1">
<nlm:aff id="I1">Istituto di Informatica e Telematica, Consiglio Nazionale delle Ricerche, Pisa I-56124, Italy</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Istituto di Informatica e Telematica, Consiglio Nazionale delle Ricerche, Pisa I-56124</wicri:regionArea>
<placeName>
<settlement type="city">Pise</settlement>
<region nuts="2">Toscane</region>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Renda, Maria Elena" sort="Renda, Maria Elena" uniqKey="Renda M" first="Maria Elena" last="Renda">Maria Elena Renda</name>
<affiliation wicri:level="1">
<nlm:aff id="I1">Istituto di Informatica e Telematica, Consiglio Nazionale delle Ricerche, Pisa I-56124, Italy</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Istituto di Informatica e Telematica, Consiglio Nazionale delle Ricerche, Pisa I-56124</wicri:regionArea>
<placeName>
<settlement type="city">Pise</settlement>
<region nuts="2">Toscane</region>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Vecchio, Alessio" sort="Vecchio, Alessio" uniqKey="Vecchio A" first="Alessio" last="Vecchio">Alessio Vecchio</name>
<affiliation wicri:level="4">
<nlm:aff id="I2">Dipartimento di Ingegneria dell'Informazione, Università di Pisa, Pisa I-56122, Italy</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Dipartimento di Ingegneria dell'Informazione, Università di Pisa, Pisa I-56122</wicri:regionArea>
<placeName>
<settlement type="city">Pise</settlement>
<region nuts="2">Toscane</region>
</placeName>
<orgName type="university">Université de Pise</orgName>
<placeName>
<settlement type="city">Pise</settlement>
<region type="region" nuts="2">Toscane</region>
</placeName>
</affiliation>
</author>
</analytic>
<series>
<title level="j">BMC Bioinformatics</title>
<idno type="eISSN">1471-2105</idno>
<imprint>
<date when="2012">2012</date>
</imprint>
</series>
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</sourceDesc>
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<profileDesc>
<textClass></textClass>
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</teiHeader>
<front>
<div type="abstract" xml:lang="en">
<sec>
<title>Background</title>
<p>Tandem repeats are multiple duplications of substrings in the DNA that occur contiguously, or at a short distance, and may involve some mutations (such as substitutions, insertions, and deletions). Tandem repeats have been extensively studied also for their association with the class of repeat expansion diseases (mostly affecting the nervous system). Comparative studies on the output of different tools for finding tandem repeats highlighted significant differences among the sets of detected tandem repeats, while many authors pointed up how critical it is the right choice of parameters.</p>
</sec>
<sec>
<title>Results</title>
<p>In this paper we present
<italic>TReaDS - Tandem Repeats Discovery Service</italic>
, a
<italic>tandem repeat meta search engine</italic>
.
<italic>TReaDS </italic>
forwards user requests to several state of the art tools for finding tandem repeats and merges their outcome into a single report, providing a global, synthetic, and comparative view of the results. In particular,
<italic>TReaDS </italic>
allows the user to (
<italic>i</italic>
) simultaneously run different algorithms on the same data set, (
<italic>ii</italic>
) choose for each algorithm a different setting of parameters, and (
<italic>iii</italic>
) obtain a report that can be downloaded for further, off-line, investigations. We used
<italic>TReaDS </italic>
to investigate sequences associated with repeat expansion diseases.</p>
</sec>
<sec>
<title>Conclusions</title>
<p>By using the tool
<italic>TReaDS </italic>
we discover that, for 27 repeat expansion diseases out of a currently known set of 29,
<italic>long fuzzy tandem repeats </italic>
are covering the expansion loci. Tests with control sets confirm the specificity of this association. This finding suggests that long fuzzy tandem repeats can be a new class of cis-acting elements involved in the mechanisms leading to the expansion instability.</p>
<p>We strongly believe that biologists can be interested in a tool that, not only gives them the possibility of using multiple search algorithm at the same time, with the same effort exerted in using just one of the systems, but also simplifies the burden of comparing and merging the results, thus expanding our capabilities in detecting important phenomena related to tandem repeats.</p>
</sec>
</div>
</front>
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<title xml:lang="en">Tandem repeats discovery service (TReaDS) applied to finding novel cis-acting factors in repeat expansion diseases.</title>
<author>
<name sortKey="Pellegrini, Marco" sort="Pellegrini, Marco" uniqKey="Pellegrini M" first="Marco" last="Pellegrini">Marco Pellegrini</name>
<affiliation wicri:level="1">
<nlm:affiliation>Istituto di Informatica e Telematica, Consiglio Nazionale delle Ricerche, Pisa I-56124, Italy.</nlm:affiliation>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Istituto di Informatica e Telematica, Consiglio Nazionale delle Ricerche, Pisa I-56124</wicri:regionArea>
<placeName>
<settlement type="city">Pise</settlement>
<region nuts="2">Toscane</region>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Renda, Maria Elena" sort="Renda, Maria Elena" uniqKey="Renda M" first="Maria Elena" last="Renda">Maria Elena Renda</name>
</author>
<author>
<name sortKey="Vecchio, Alessio" sort="Vecchio, Alessio" uniqKey="Vecchio A" first="Alessio" last="Vecchio">Alessio Vecchio</name>
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<idno type="wicri:source">PubMed</idno>
<date when="2012">2012</date>
<idno type="doi">10.1186/1471-2105-13-S4-S3</idno>
<idno type="RBID">pubmed:22536970</idno>
<idno type="pmid">22536970</idno>
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<title xml:lang="en">Tandem repeats discovery service (TReaDS) applied to finding novel cis-acting factors in repeat expansion diseases.</title>
<author>
<name sortKey="Pellegrini, Marco" sort="Pellegrini, Marco" uniqKey="Pellegrini M" first="Marco" last="Pellegrini">Marco Pellegrini</name>
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<nlm:affiliation>Istituto di Informatica e Telematica, Consiglio Nazionale delle Ricerche, Pisa I-56124, Italy.</nlm:affiliation>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Istituto di Informatica e Telematica, Consiglio Nazionale delle Ricerche, Pisa I-56124</wicri:regionArea>
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<settlement type="city">Pise</settlement>
<region nuts="2">Toscane</region>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Renda, Maria Elena" sort="Renda, Maria Elena" uniqKey="Renda M" first="Maria Elena" last="Renda">Maria Elena Renda</name>
</author>
<author>
<name sortKey="Vecchio, Alessio" sort="Vecchio, Alessio" uniqKey="Vecchio A" first="Alessio" last="Vecchio">Alessio Vecchio</name>
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<series>
<title level="j">BMC bioinformatics</title>
<idno type="eISSN">1471-2105</idno>
<imprint>
<date when="2012" type="published">2012</date>
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<keywords scheme="KwdEn" xml:lang="en">
<term>Algorithms</term>
<term>DNA Repeat Expansion</term>
<term>Humans</term>
<term>Neurodegenerative Diseases (genetics)</term>
<term>Neuromuscular Diseases (genetics)</term>
<term>Peptides (genetics)</term>
<term>Polymorphism, Single Nucleotide</term>
<term>Search Engine</term>
<term>Sequence Analysis, DNA (methods)</term>
</keywords>
<keywords scheme="KwdFr" xml:lang="fr">
<term>Algorithmes</term>
<term>Analyse de séquence d'ADN ()</term>
<term>Expansion de séquence répétée de l'ADN</term>
<term>Humains</term>
<term>Maladies neurodégénératives (génétique)</term>
<term>Maladies neuromusculaires (génétique)</term>
<term>Moteur de recherche</term>
<term>Peptides (génétique)</term>
<term>Polymorphisme de nucléotide simple</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en">
<term>Peptides</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en">
<term>Neurodegenerative Diseases</term>
<term>Neuromuscular Diseases</term>
</keywords>
<keywords scheme="MESH" qualifier="génétique" xml:lang="fr">
<term>Maladies neurodégénératives</term>
<term>Maladies neuromusculaires</term>
<term>Peptides</term>
</keywords>
<keywords scheme="MESH" qualifier="methods" xml:lang="en">
<term>Sequence Analysis, DNA</term>
</keywords>
<keywords scheme="MESH" xml:lang="en">
<term>Algorithms</term>
<term>DNA Repeat Expansion</term>
<term>Humans</term>
<term>Polymorphism, Single Nucleotide</term>
<term>Search Engine</term>
</keywords>
<keywords scheme="MESH" xml:lang="fr">
<term>Algorithmes</term>
<term>Analyse de séquence d'ADN</term>
<term>Expansion de séquence répétée de l'ADN</term>
<term>Humains</term>
<term>Moteur de recherche</term>
<term>Polymorphisme de nucléotide simple</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front>
<div type="abstract" xml:lang="en">Tandem repeats are multiple duplications of substrings in the DNA that occur contiguously, or at a short distance, and may involve some mutations (such as substitutions, insertions, and deletions). Tandem repeats have been extensively studied also for their association with the class of repeat expansion diseases (mostly affecting the nervous system). Comparative studies on the output of different tools for finding tandem repeats highlighted significant differences among the sets of detected tandem repeats, while many authors pointed up how critical it is the right choice of parameters.</div>
</front>
</TEI>
</pubmed>
</double>
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