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Alignathon: a competitive assessment of whole-genome alignment methods

Identifieur interne : 003C24 ( Main/Exploration ); précédent : 003C23; suivant : 003C25

Alignathon: a competitive assessment of whole-genome alignment methods

Auteurs : Dent Earl [États-Unis] ; Ngan Nguyen [États-Unis] ; Glenn Hickey [Canada] ; Robert S. Harris [États-Unis] ; Stephen Fitzgerald [Royaume-Uni] ; Kathryn Beal [Royaume-Uni] ; Igor Seledtsov [États-Unis] ; Vladimir Molodtsov [États-Unis] ; Brian J. Raney [États-Unis] ; Hiram Clawson [États-Unis] ; Jaebum Kim [Corée du Sud] ; Carsten Kemena [Espagne, Allemagne] ; Jia-Ming Chang [Espagne, France] ; Ionas Erb [Espagne] ; Alexander Poliakov [États-Unis] ; Minmei Hou [États-Unis] ; Javier Herrero [Royaume-Uni] ; William James Kent [États-Unis] ; Victor Solovyev [États-Unis] ; Aaron E. Darling [Australie] ; Jian Ma [États-Unis] ; Cedric Notredame [Espagne] ; Michael Brudno [Canada] ; Inna Dubchak [États-Unis] ; David Haussler [États-Unis] ; Benedict Paten [États-Unis]

Source :

RBID : PMC:4248324

Descripteurs français

English descriptors

Abstract

Multiple sequence alignments (MSAs) are a prerequisite for a wide variety of evolutionary analyses. Published assessments and benchmark data sets for protein and, to a lesser extent, global nucleotide MSAs are available, but less effort has been made to establish benchmarks in the more general problem of whole-genome alignment (WGA). Using the same model as the successful Assemblathon competitions, we organized a competitive evaluation in which teams submitted their alignments and then assessments were performed collectively after all the submissions were received. Three data sets were used: Two were simulated and based on primate and mammalian phylogenies, and one was comprised of 20 real fly genomes. In total, 35 submissions were assessed, submitted by 10 teams using 12 different alignment pipelines. We found agreement between independent simulation-based and statistical assessments, indicating that there are substantial accuracy differences between contemporary alignment tools. We saw considerable differences in the alignment quality of differently annotated regions and found that few tools aligned the duplications analyzed. We found that many tools worked well at shorter evolutionary distances, but fewer performed competitively at longer distances. We provide all data sets, submissions, and assessment programs for further study and provide, as a resource for future benchmarking, a convenient repository of code and data for reproducing the simulation assessments.


Url:
DOI: 10.1101/gr.174920.114
PubMed: 25273068
PubMed Central: 4248324


Affiliations:


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


Le document en format XML

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<name sortKey="Herrero, Javier" sort="Herrero, Javier" uniqKey="Herrero J" first="Javier" last="Herrero">Javier Herrero</name>
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<name sortKey="Solovyev, Victor" sort="Solovyev, Victor" uniqKey="Solovyev V" first="Victor" last="Solovyev">Victor Solovyev</name>
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<name sortKey="Ma, Jian" sort="Ma, Jian" uniqKey="Ma J" first="Jian" last="Ma">Jian Ma</name>
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<name sortKey="Notredame, Cedric" sort="Notredame, Cedric" uniqKey="Notredame C" first="Cedric" last="Notredame">Cedric Notredame</name>
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<name sortKey="Brudno, Michael" sort="Brudno, Michael" uniqKey="Brudno M" first="Michael" last="Brudno">Michael Brudno</name>
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<name sortKey="Haussler, David" sort="Haussler, David" uniqKey="Haussler D" first="David" last="Haussler">David Haussler</name>
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<nlm:aff id="aff1">Center for Biomolecular Science and Engineering, University of California Santa Cruz, Santa Cruz, California 95064, USA;</nlm:aff>
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<nlm:aff id="aff20">Howard Hughes Medical Institute, Chevy Chase, Maryland 20815-6789, USA</nlm:aff>
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<idno type="eISSN">1549-5469</idno>
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<date when="2014">2014</date>
</imprint>
</series>
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</fileDesc>
<profileDesc>
<textClass>
<keywords scheme="KwdEn" xml:lang="en">
<term>Animals</term>
<term>Computational Biology (methods)</term>
<term>Computer Simulation</term>
<term>Datasets as Topic</term>
<term>Genome</term>
<term>Genome-Wide Association Study</term>
<term>Genomics (methods)</term>
<term>Humans</term>
<term>Mammals (genetics)</term>
<term>Phylogeny</term>
<term>Reproducibility of Results</term>
<term>Sequence Alignment (methods)</term>
<term>Software</term>
</keywords>
<keywords scheme="KwdFr" xml:lang="fr">
<term>Alignement de séquences ()</term>
<term>Animaux</term>
<term>Biologie informatique ()</term>
<term>Données de la recherche comme sujet</term>
<term>Génome</term>
<term>Génomique ()</term>
<term>Humains</term>
<term>Logiciel</term>
<term>Mammifères (génétique)</term>
<term>Phylogénie</term>
<term>Reproductibilité des résultats</term>
<term>Simulation numérique</term>
<term>Étude d'association pangénomique</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en">
<term>Mammals</term>
</keywords>
<keywords scheme="MESH" qualifier="génétique" xml:lang="fr">
<term>Mammifères</term>
</keywords>
<keywords scheme="MESH" qualifier="methods" xml:lang="en">
<term>Computational Biology</term>
<term>Genomics</term>
<term>Sequence Alignment</term>
</keywords>
<keywords scheme="MESH" xml:lang="en">
<term>Animals</term>
<term>Computer Simulation</term>
<term>Datasets as Topic</term>
<term>Genome</term>
<term>Genome-Wide Association Study</term>
<term>Humans</term>
<term>Phylogeny</term>
<term>Reproducibility of Results</term>
<term>Software</term>
</keywords>
<keywords scheme="MESH" xml:lang="fr">
<term>Alignement de séquences</term>
<term>Animaux</term>
<term>Biologie informatique</term>
<term>Données de la recherche comme sujet</term>
<term>Génome</term>
<term>Génomique</term>
<term>Humains</term>
<term>Logiciel</term>
<term>Phylogénie</term>
<term>Reproductibilité des résultats</term>
<term>Simulation numérique</term>
<term>Étude d'association pangénomique</term>
</keywords>
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<front>
<div type="abstract" xml:lang="en">
<p>Multiple sequence alignments (MSAs) are a prerequisite for a wide variety of evolutionary analyses. Published assessments and benchmark data sets for protein and, to a lesser extent, global nucleotide MSAs are available, but less effort has been made to establish benchmarks in the more general problem of whole-genome alignment (WGA). Using the same model as the successful Assemblathon competitions, we organized a competitive evaluation in which teams submitted their alignments and then assessments were performed collectively after all the submissions were received. Three data sets were used: Two were simulated and based on primate and mammalian phylogenies, and one was comprised of 20 real fly genomes. In total, 35 submissions were assessed, submitted by 10 teams using 12 different alignment pipelines. We found agreement between independent simulation-based and statistical assessments, indicating that there are substantial accuracy differences between contemporary alignment tools. We saw considerable differences in the alignment quality of differently annotated regions and found that few tools aligned the duplications analyzed. We found that many tools worked well at shorter evolutionary distances, but fewer performed competitively at longer distances. We provide all data sets, submissions, and assessment programs for further study and provide, as a resource for future benchmarking, a convenient repository of code and data for reproducing the simulation assessments.</p>
</div>
</front>
</TEI>
<affiliations>
<list>
<country>
<li>Allemagne</li>
<li>Australie</li>
<li>Canada</li>
<li>Corée du Sud</li>
<li>Espagne</li>
<li>France</li>
<li>Royaume-Uni</li>
<li>États-Unis</li>
</country>
<region>
<li>Catalogne</li>
<li>District de Münster</li>
<li>Languedoc-Roussillon</li>
<li>Occitanie (région administrative)</li>
<li>Ontario</li>
<li>Pennsylvanie</li>
<li>Québec</li>
<li>Rhénanie-du-Nord-Westphalie</li>
<li>Région capitale de Séoul</li>
</region>
<settlement>
<li>Barcelone</li>
<li>Montpellier</li>
<li>Montréal</li>
<li>Münster</li>
<li>Séoul</li>
<li>Toronto</li>
<li>University Park (Pennsylvanie)</li>
</settlement>
<orgName>
<li>Université McGill</li>
<li>Université Pompeu Fabra</li>
<li>Université d'État de Pennsylvanie</li>
<li>Université de Toronto</li>
</orgName>
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<name sortKey="Dubchak, Inna" sort="Dubchak, Inna" uniqKey="Dubchak I" first="Inna" last="Dubchak">Inna Dubchak</name>
<name sortKey="Dubchak, Inna" sort="Dubchak, Inna" uniqKey="Dubchak I" first="Inna" last="Dubchak">Inna Dubchak</name>
<name sortKey="Earl, Dent" sort="Earl, Dent" uniqKey="Earl D" first="Dent" last="Earl">Dent Earl</name>
<name sortKey="Harris, Robert S" sort="Harris, Robert S" uniqKey="Harris R" first="Robert S." last="Harris">Robert S. Harris</name>
<name sortKey="Haussler, David" sort="Haussler, David" uniqKey="Haussler D" first="David" last="Haussler">David Haussler</name>
<name sortKey="Haussler, David" sort="Haussler, David" uniqKey="Haussler D" first="David" last="Haussler">David Haussler</name>
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<name sortKey="Hou, Minmei" sort="Hou, Minmei" uniqKey="Hou M" first="Minmei" last="Hou">Minmei Hou</name>
<name sortKey="Kent, William James" sort="Kent, William James" uniqKey="Kent W" first="William James" last="Kent">William James Kent</name>
<name sortKey="Kent, William James" sort="Kent, William James" uniqKey="Kent W" first="William James" last="Kent">William James Kent</name>
<name sortKey="Ma, Jian" sort="Ma, Jian" uniqKey="Ma J" first="Jian" last="Ma">Jian Ma</name>
<name sortKey="Molodtsov, Vladimir" sort="Molodtsov, Vladimir" uniqKey="Molodtsov V" first="Vladimir" last="Molodtsov">Vladimir Molodtsov</name>
<name sortKey="Nguyen, Ngan" sort="Nguyen, Ngan" uniqKey="Nguyen N" first="Ngan" last="Nguyen">Ngan Nguyen</name>
<name sortKey="Nguyen, Ngan" sort="Nguyen, Ngan" uniqKey="Nguyen N" first="Ngan" last="Nguyen">Ngan Nguyen</name>
<name sortKey="Paten, Benedict" sort="Paten, Benedict" uniqKey="Paten B" first="Benedict" last="Paten">Benedict Paten</name>
<name sortKey="Paten, Benedict" sort="Paten, Benedict" uniqKey="Paten B" first="Benedict" last="Paten">Benedict Paten</name>
<name sortKey="Poliakov, Alexander" sort="Poliakov, Alexander" uniqKey="Poliakov A" first="Alexander" last="Poliakov">Alexander Poliakov</name>
<name sortKey="Raney, Brian J" sort="Raney, Brian J" uniqKey="Raney B" first="Brian J." last="Raney">Brian J. Raney</name>
<name sortKey="Seledtsov, Igor" sort="Seledtsov, Igor" uniqKey="Seledtsov I" first="Igor" last="Seledtsov">Igor Seledtsov</name>
<name sortKey="Solovyev, Victor" sort="Solovyev, Victor" uniqKey="Solovyev V" first="Victor" last="Solovyev">Victor Solovyev</name>
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<region name="Québec">
<name sortKey="Hickey, Glenn" sort="Hickey, Glenn" uniqKey="Hickey G" first="Glenn" last="Hickey">Glenn Hickey</name>
</region>
<name sortKey="Brudno, Michael" sort="Brudno, Michael" uniqKey="Brudno M" first="Michael" last="Brudno">Michael Brudno</name>
<name sortKey="Brudno, Michael" sort="Brudno, Michael" uniqKey="Brudno M" first="Michael" last="Brudno">Michael Brudno</name>
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<noRegion>
<name sortKey="Fitzgerald, Stephen" sort="Fitzgerald, Stephen" uniqKey="Fitzgerald S" first="Stephen" last="Fitzgerald">Stephen Fitzgerald</name>
</noRegion>
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<name sortKey="Herrero, Javier" sort="Herrero, Javier" uniqKey="Herrero J" first="Javier" last="Herrero">Javier Herrero</name>
<name sortKey="Herrero, Javier" sort="Herrero, Javier" uniqKey="Herrero J" first="Javier" last="Herrero">Javier Herrero</name>
</country>
<country name="Corée du Sud">
<region name="Région capitale de Séoul">
<name sortKey="Kim, Jaebum" sort="Kim, Jaebum" uniqKey="Kim J" first="Jaebum" last="Kim">Jaebum Kim</name>
</region>
</country>
<country name="Espagne">
<region name="Catalogne">
<name sortKey="Kemena, Carsten" sort="Kemena, Carsten" uniqKey="Kemena C" first="Carsten" last="Kemena">Carsten Kemena</name>
</region>
<name sortKey="Chang, Jia Ming" sort="Chang, Jia Ming" uniqKey="Chang J" first="Jia-Ming" last="Chang">Jia-Ming Chang</name>
<name sortKey="Chang, Jia Ming" sort="Chang, Jia Ming" uniqKey="Chang J" first="Jia-Ming" last="Chang">Jia-Ming Chang</name>
<name sortKey="Erb, Ionas" sort="Erb, Ionas" uniqKey="Erb I" first="Ionas" last="Erb">Ionas Erb</name>
<name sortKey="Erb, Ionas" sort="Erb, Ionas" uniqKey="Erb I" first="Ionas" last="Erb">Ionas Erb</name>
<name sortKey="Kemena, Carsten" sort="Kemena, Carsten" uniqKey="Kemena C" first="Carsten" last="Kemena">Carsten Kemena</name>
<name sortKey="Notredame, Cedric" sort="Notredame, Cedric" uniqKey="Notredame C" first="Cedric" last="Notredame">Cedric Notredame</name>
<name sortKey="Notredame, Cedric" sort="Notredame, Cedric" uniqKey="Notredame C" first="Cedric" last="Notredame">Cedric Notredame</name>
</country>
<country name="Allemagne">
<region name="Rhénanie-du-Nord-Westphalie">
<name sortKey="Kemena, Carsten" sort="Kemena, Carsten" uniqKey="Kemena C" first="Carsten" last="Kemena">Carsten Kemena</name>
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<region name="Occitanie (région administrative)">
<name sortKey="Chang, Jia Ming" sort="Chang, Jia Ming" uniqKey="Chang J" first="Jia-Ming" last="Chang">Jia-Ming Chang</name>
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<name sortKey="Darling, Aaron E" sort="Darling, Aaron E" uniqKey="Darling A" first="Aaron E." last="Darling">Aaron E. Darling</name>
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</affiliations>
</record>

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