EXCAVATOR: detecting copy number variants from whole-exome sequencing data
Identifieur interne : 000345 ( Pmc/Curation ); précédent : 000344; suivant : 000346EXCAVATOR: detecting copy number variants from whole-exome sequencing data
Auteurs : Alberto Magi [Italie] ; Lorenzo Tattini [Italie] ; Ingrid Cifola [Italie] ; Romina D Urizio [Italie] ; Matteo Benelli [Italie] ; Eleonora Mangano [Italie] ; Cristina Battaglia [Italie] ; Elena Bonora [Italie] ; Ants Kurg [Estonie] ; Marco Seri [Italie] ; Pamela Magini [Italie] ; Betti Giusti [Italie] ; Giovanni Romeo [Italie] ; Tommaso Pippucci [Italie] ; Gianluca De Bellis [Italie] ; Rosanna Abbate [Italie] ; Gian Franco Gensini [Italie]Source :
- Genome Biology [ 1465-6906 ] ; 2013.
Abstract
We developed a novel software tool, EXCAVATOR, for the detection of copy number variants (CNVs) from whole-exome sequencing data. EXCAVATOR combines a three-step normalization procedure with a novel heterogeneous hidden Markov model algorithm and a calling method that classifies genomic regions into five copy number states. We validate EXCAVATOR on three datasets and compare the results with three other methods. These analyses show that EXCAVATOR outperforms the other methods and is therefore a valuable tool for the investigation of CNVs in largescale projects, as well as in clinical research and diagnostics. EXCAVATOR is freely available at
Url:
DOI: 10.1186/gb-2013-14-10-r120
PubMed: 24172663
PubMed Central: 4053953
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Bonora</name><affiliation wicri:level="1"><nlm:aff id="I7">Medical Genetics Unit, Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Medical Genetics Unit, Department of Medical and Surgical Sciences, University of Bologna, Bologna</wicri:regionArea></affiliation></author><author><name sortKey="Kurg, Ants" sort="Kurg, Ants" uniqKey="Kurg A" first="Ants" last="Kurg">Ants Kurg</name><affiliation wicri:level="1"><nlm:aff id="I8">Institute of Molecular and Cell Biology, University of Tartu, Tartu, Estonia</nlm:aff><country xml:lang="fr">Estonie</country><wicri:regionArea>Institute of Molecular and Cell Biology, University of Tartu, Tartu</wicri:regionArea></affiliation></author><author><name sortKey="Seri, Marco" sort="Seri, Marco" uniqKey="Seri M" first="Marco" last="Seri">Marco Seri</name><affiliation wicri:level="1"><nlm:aff id="I7">Medical Genetics Unit, Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Medical Genetics Unit, Department of Medical and Surgical Sciences, University of Bologna, Bologna</wicri:regionArea></affiliation></author><author><name sortKey="Magini, Pamela" sort="Magini, Pamela" uniqKey="Magini P" first="Pamela" last="Magini">Pamela Magini</name><affiliation wicri:level="1"><nlm:aff id="I7">Medical Genetics Unit, Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Medical Genetics Unit, Department of Medical and Surgical Sciences, University of Bologna, Bologna</wicri:regionArea></affiliation></author><author><name sortKey="Giusti, Betti" sort="Giusti, Betti" uniqKey="Giusti B" first="Betti" last="Giusti">Betti Giusti</name><affiliation wicri:level="1"><nlm:aff id="I1">Department of Clinical and Experimental Medicine, University of Florence, Florence, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Clinical and Experimental Medicine, University of Florence, Florence</wicri:regionArea></affiliation></author><author><name sortKey="Romeo, Giovanni" sort="Romeo, Giovanni" uniqKey="Romeo G" first="Giovanni" last="Romeo">Giovanni Romeo</name><affiliation wicri:level="1"><nlm:aff id="I7">Medical Genetics Unit, Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Medical Genetics Unit, Department of Medical and Surgical Sciences, University of Bologna, Bologna</wicri:regionArea></affiliation></author><author><name sortKey="Pippucci, Tommaso" sort="Pippucci, Tommaso" uniqKey="Pippucci T" first="Tommaso" last="Pippucci">Tommaso Pippucci</name><affiliation wicri:level="1"><nlm:aff id="I7">Medical Genetics Unit, Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy</nlm:aff><country 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xml:lang="fr">Italie</country><wicri:regionArea>Department of Clinical and Experimental Medicine, University of Florence, Florence</wicri:regionArea></affiliation></author><author><name sortKey="Gensini, Gian Franco" sort="Gensini, Gian Franco" uniqKey="Gensini G" first="Gian Franco" last="Gensini">Gian Franco Gensini</name><affiliation wicri:level="1"><nlm:aff id="I1">Department of Clinical and Experimental Medicine, University of Florence, Florence, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Clinical and Experimental Medicine, University of Florence, Florence</wicri:regionArea></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">24172663</idno><idno type="pmc">4053953</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4053953</idno><idno type="RBID">PMC:4053953</idno><idno type="doi">10.1186/gb-2013-14-10-r120</idno><date when="2013">2013</date><idno 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first="Lorenzo" last="Tattini">Lorenzo Tattini</name><affiliation wicri:level="1"><nlm:aff id="I1">Department of Clinical and Experimental Medicine, University of Florence, Florence, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Clinical and Experimental Medicine, University of Florence, Florence</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="I2">Laboratory of Molecular Genetics, G. Gaslini Institute, Genoa, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Laboratory of Molecular Genetics, G. Gaslini Institute, Genoa</wicri:regionArea></affiliation></author><author><name sortKey="Cifola, Ingrid" sort="Cifola, Ingrid" uniqKey="Cifola I" first="Ingrid" last="Cifola">Ingrid Cifola</name><affiliation wicri:level="1"><nlm:aff id="I3">Institute for Biomedical Technologies, National Research Council, Segrate, Milano, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Institute for Biomedical Technologies, National Research Council, Segrate, Milano</wicri:regionArea></affiliation></author><author><name sortKey="D Urizio, Romina" sort="D Urizio, Romina" uniqKey="D Urizio R" first="Romina" last="D Urizio">Romina D Urizio</name><affiliation wicri:level="1"><nlm:aff id="I4">Laboratory of Integrative Systems Medicine (LISM), Institute of Informatics and Telematics and Institute of Clinical Physiology, National Research Council, Pisa, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Laboratory of Integrative Systems Medicine (LISM), Institute of Informatics and Telematics and Institute of Clinical Physiology, National Research Council, Pisa</wicri:regionArea></affiliation></author><author><name sortKey="Benelli, Matteo" sort="Benelli, Matteo" uniqKey="Benelli M" first="Matteo" last="Benelli">Matteo Benelli</name><affiliation wicri:level="1"><nlm:aff id="I5">Diagnostic Genetic Unit, Careggi Hospital, Florence, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Diagnostic Genetic Unit, Careggi Hospital, Florence</wicri:regionArea></affiliation></author><author><name sortKey="Mangano, Eleonora" sort="Mangano, Eleonora" uniqKey="Mangano E" first="Eleonora" last="Mangano">Eleonora Mangano</name><affiliation wicri:level="1"><nlm:aff id="I3">Institute for Biomedical Technologies, National Research Council, Segrate, Milano, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Institute for Biomedical Technologies, National Research Council, Segrate, Milano</wicri:regionArea></affiliation></author><author><name sortKey="Battaglia, Cristina" sort="Battaglia, Cristina" uniqKey="Battaglia C" first="Cristina" last="Battaglia">Cristina Battaglia</name><affiliation wicri:level="1"><nlm:aff id="I3">Institute for Biomedical Technologies, National Research Council, Segrate, Milano, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Institute for Biomedical Technologies, National Research Council, Segrate, Milano</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="I6">Dipartimento di Biotecnologie Mediche e Medicina Traslazionale (BIOMETRA), University of Milan, Milan, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Dipartimento di Biotecnologie Mediche e Medicina Traslazionale (BIOMETRA), University of Milan, Milan</wicri:regionArea></affiliation></author><author><name sortKey="Bonora, Elena" sort="Bonora, Elena" uniqKey="Bonora E" first="Elena" last="Bonora">Elena Bonora</name><affiliation wicri:level="1"><nlm:aff id="I7">Medical Genetics Unit, Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Medical Genetics Unit, Department of Medical and Surgical Sciences, University of Bologna, Bologna</wicri:regionArea></affiliation></author><author><name sortKey="Kurg, Ants" sort="Kurg, Ants" uniqKey="Kurg A" first="Ants" last="Kurg">Ants Kurg</name><affiliation wicri:level="1"><nlm:aff id="I8">Institute of Molecular and Cell Biology, University of Tartu, Tartu, Estonia</nlm:aff><country xml:lang="fr">Estonie</country><wicri:regionArea>Institute of Molecular and Cell Biology, University of Tartu, Tartu</wicri:regionArea></affiliation></author><author><name sortKey="Seri, Marco" sort="Seri, Marco" uniqKey="Seri M" first="Marco" last="Seri">Marco Seri</name><affiliation wicri:level="1"><nlm:aff id="I7">Medical Genetics Unit, Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Medical Genetics Unit, Department of Medical and Surgical Sciences, University of Bologna, Bologna</wicri:regionArea></affiliation></author><author><name sortKey="Magini, Pamela" sort="Magini, Pamela" uniqKey="Magini P" first="Pamela" last="Magini">Pamela Magini</name><affiliation wicri:level="1"><nlm:aff id="I7">Medical Genetics Unit, Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Medical Genetics Unit, Department of Medical and Surgical Sciences, University of Bologna, Bologna</wicri:regionArea></affiliation></author><author><name sortKey="Giusti, Betti" sort="Giusti, Betti" uniqKey="Giusti B" first="Betti" last="Giusti">Betti Giusti</name><affiliation wicri:level="1"><nlm:aff id="I1">Department of Clinical and Experimental Medicine, University of Florence, Florence, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Clinical and Experimental Medicine, University of Florence, Florence</wicri:regionArea></affiliation></author><author><name sortKey="Romeo, Giovanni" sort="Romeo, Giovanni" uniqKey="Romeo G" first="Giovanni" last="Romeo">Giovanni Romeo</name><affiliation wicri:level="1"><nlm:aff id="I7">Medical Genetics Unit, Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Medical Genetics Unit, Department of Medical and Surgical Sciences, University of Bologna, Bologna</wicri:regionArea></affiliation></author><author><name sortKey="Pippucci, Tommaso" sort="Pippucci, Tommaso" uniqKey="Pippucci T" first="Tommaso" last="Pippucci">Tommaso Pippucci</name><affiliation wicri:level="1"><nlm:aff id="I7">Medical Genetics Unit, Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Medical Genetics Unit, Department of Medical and Surgical Sciences, University of Bologna, Bologna</wicri:regionArea></affiliation></author><author><name sortKey="Bellis, Gianluca De" sort="Bellis, Gianluca De" uniqKey="Bellis G" first="Gianluca De" last="Bellis">Gianluca De Bellis</name><affiliation wicri:level="1"><nlm:aff id="I3">Institute for Biomedical Technologies, National Research Council, Segrate, Milano, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Institute for Biomedical Technologies, National Research Council, Segrate, Milano</wicri:regionArea></affiliation></author><author><name sortKey="Abbate, Rosanna" sort="Abbate, Rosanna" uniqKey="Abbate R" first="Rosanna" last="Abbate">Rosanna Abbate</name><affiliation wicri:level="1"><nlm:aff id="I1">Department of Clinical and Experimental Medicine, University of Florence, Florence, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Clinical and Experimental Medicine, University of Florence, Florence</wicri:regionArea></affiliation></author><author><name sortKey="Gensini, Gian Franco" sort="Gensini, Gian Franco" uniqKey="Gensini G" first="Gian Franco" last="Gensini">Gian Franco Gensini</name><affiliation wicri:level="1"><nlm:aff id="I1">Department of Clinical and Experimental Medicine, University of Florence, Florence, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Clinical and Experimental Medicine, University of Florence, Florence</wicri:regionArea></affiliation></author></analytic><series><title level="j">Genome Biology</title><idno type="ISSN">1465-6906</idno><idno type="eISSN">1465-6914</idno><imprint><date when="2013">2013</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><sec><title></title><p>We developed a novel software tool, EXCAVATOR, for the detection of copy number variants (CNVs) from whole-exome sequencing data. EXCAVATOR combines a three-step normalization procedure with a novel heterogeneous hidden Markov model algorithm and a calling method that classifies genomic regions into five copy number states. We validate EXCAVATOR on three datasets and compare the results with three other methods. These analyses show that EXCAVATOR outperforms the other methods and is therefore a valuable tool for the investigation of CNVs in largescale projects, as well as in clinical research and diagnostics. EXCAVATOR is freely available at <ext-link ext-link-type="uri" xlink:href="http://sourceforge.net/projects/excavatortool/">http://sourceforge.net/projects/excavatortool/</ext-link>.</p></sec></div></front><back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Alkan, C" uniqKey="Alkan C">C Alkan</name></author><author><name sortKey="Coe, Bp" uniqKey="Coe B">BP Coe</name></author><author><name sortKey="Eichler, Ee" uniqKey="Eichler E">EE Eichler</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Iafrate, Aj" uniqKey="Iafrate A">AJ Iafrate</name></author><author><name sortKey="Feuk, L" uniqKey="Feuk L">L Feuk</name></author><author><name sortKey="Rivera, Mn" uniqKey="Rivera M">MN Rivera</name></author><author><name sortKey="Listewnik, Ml" uniqKey="Listewnik M">ML Listewnik</name></author><author><name sortKey="Donahoe, Pk" uniqKey="Donahoe P">PK Donahoe</name></author><author><name sortKey="Qi, Y" uniqKey="Qi Y">Y Qi</name></author><author><name sortKey="Scherer, Sw" uniqKey="Scherer S">SW Scherer</name></author><author><name sortKey="Lee, C" uniqKey="Lee C">C Lee</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Tuzun, E" uniqKey="Tuzun E">E Tuzun</name></author><author><name sortKey="Sharp, Aj" uniqKey="Sharp A">AJ Sharp</name></author><author><name sortKey="Bailey, Ja" uniqKey="Bailey J">JA Bailey</name></author><author><name sortKey="Kaul, R" uniqKey="Kaul R">R Kaul</name></author><author><name sortKey="Morrison, Va" uniqKey="Morrison V">VA Morrison</name></author><author><name sortKey="Pertz, Lm" uniqKey="Pertz L">LM Pertz</name></author><author><name sortKey="Haugen, E" uniqKey="Haugen E">E Haugen</name></author><author><name sortKey="Hayden, H" uniqKey="Hayden H">H Hayden</name></author><author><name sortKey="Albertson, D" uniqKey="Albertson D">D Albertson</name></author><author><name sortKey="Pinkel, D" uniqKey="Pinkel D">D Pinkel</name></author><author><name sortKey="Olson, Mv" uniqKey="Olson M">MV Olson</name></author><author><name sortKey="Eichler, Ee" uniqKey="Eichler E">EE Eichler</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Redon, R" uniqKey="Redon R">R Redon</name></author><author><name sortKey="Ishikawa, S" uniqKey="Ishikawa S">S Ishikawa</name></author><author><name sortKey="Fitch, Kr" uniqKey="Fitch K">KR Fitch</name></author><author><name sortKey="Feuk, L" uniqKey="Feuk L">L Feuk</name></author><author><name sortKey="Perry, Gh" uniqKey="Perry G">GH Perry</name></author><author><name sortKey="Andrews, Td" uniqKey="Andrews T">TD Andrews</name></author><author><name sortKey="Fiegler, H" uniqKey="Fiegler H">H Fiegler</name></author><author><name sortKey="Shapero, Mh" uniqKey="Shapero M">MH Shapero</name></author><author><name sortKey="Carson, Ar" uniqKey="Carson A">AR Carson</name></author><author><name sortKey="Chen, W" uniqKey="Chen W">W Chen</name></author><author><name sortKey="Cho, Ek" uniqKey="Cho E">EK Cho</name></author><author><name sortKey="Dallaire, S" uniqKey="Dallaire S">S Dallaire</name></author><author><name sortKey="Freeman, Jl" uniqKey="Freeman J">JL Freeman</name></author><author><name sortKey="Gonzalez, Jr" uniqKey="Gonzalez J">JR González</name></author><author><name sortKey="Gratac S, M" uniqKey="Gratac S M">M Gratacòs</name></author><author><name sortKey="Huang, J" uniqKey="Huang J">J Huang</name></author><author><name sortKey="Kalaitzopoulos, D" uniqKey="Kalaitzopoulos D">D Kalaitzopoulos</name></author><author><name sortKey="Komura, D" uniqKey="Komura D">D Komura</name></author><author><name sortKey="Macdonald, Jr" uniqKey="Macdonald J">JR MacDonald</name></author><author><name sortKey="Marshall, Cr" uniqKey="Marshall C">CR Marshall</name></author><author><name sortKey="Mei, R" uniqKey="Mei R">R Mei</name></author><author><name sortKey="Montgomery, L" uniqKey="Montgomery L">L Montgomery</name></author><author><name sortKey="Nishimura, K" uniqKey="Nishimura K">K Nishimura</name></author><author><name sortKey="Okamura, K" uniqKey="Okamura K">K Okamura</name></author><author><name sortKey="Shen, F" uniqKey="Shen F">F Shen</name></author><author><name sortKey="Somerville, Mj" uniqKey="Somerville M">MJ Somerville</name></author><author><name sortKey="Tchinda, J" uniqKey="Tchinda J">J Tchinda</name></author><author><name sortKey="Valsesia, A" uniqKey="Valsesia A">A Valsesia</name></author><author><name sortKey="Woodwark, C" uniqKey="Woodwark C">C Woodwark</name></author><author><name sortKey="Yang, F" uniqKey="Yang F">F Yang</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Conrad, Df" uniqKey="Conrad D">DF Conrad</name></author><author><name sortKey="Pinto, D" uniqKey="Pinto D">D Pinto</name></author><author><name sortKey="Redon, R" uniqKey="Redon R">R Redon</name></author><author><name sortKey="Feuk, L" uniqKey="Feuk L">L Feuk</name></author><author><name sortKey="Gokcumen, O" uniqKey="Gokcumen O">O Gokcumen</name></author><author><name sortKey="Zhang, Y" uniqKey="Zhang Y">Y Zhang</name></author><author><name sortKey="Aerts, J" uniqKey="Aerts J">J Aerts</name></author><author><name sortKey="Andrews, Td" uniqKey="Andrews T">TD Andrews</name></author><author><name sortKey="Barnes, C" uniqKey="Barnes C">C Barnes</name></author><author><name sortKey="Campbell, P" uniqKey="Campbell P">P Campbell</name></author><author><name sortKey="Fitzgerald, T" uniqKey="Fitzgerald T">T Fitzgerald</name></author><author><name sortKey="Hu, M" uniqKey="Hu M">M Hu</name></author><author><name sortKey="Ihm, Ch" uniqKey="Ihm C">CH Ihm</name></author><author><name sortKey="Kristiansson, K" uniqKey="Kristiansson K">K Kristiansson</name></author><author><name sortKey="Macarthur, Dg" uniqKey="Macarthur D">DG Macarthur</name></author><author><name sortKey="Macdonald, Jr" uniqKey="Macdonald J">JR Macdonald</name></author><author><name sortKey="Onyiah, I" uniqKey="Onyiah I">I Onyiah</name></author><author><name sortKey="Pang, Awc" uniqKey="Pang A">AWC Pang</name></author><author><name sortKey="Robson, S" uniqKey="Robson S">S Robson</name></author><author><name sortKey="Stirrups, K" uniqKey="Stirrups K">K Stirrups</name></author><author><name sortKey="Valsesia, A" uniqKey="Valsesia A">A Valsesia</name></author><author><name sortKey="Walter, K" uniqKey="Walter K">K Walter</name></author><author><name sortKey="Wei, J" uniqKey="Wei J">J Wei</name></author><author><name sortKey="Tyler Smith, C" uniqKey="Tyler Smith C">C Tyler-Smith</name></author><author><name sortKey="Carter, Np" uniqKey="Carter N">NP Carter</name></author><author><name sortKey="Lee, C" uniqKey="Lee C">C Lee</name></author><author><name sortKey="Scherer, Sw" uniqKey="Scherer S">SW Scherer</name></author><author><name sortKey="Hurles, Me" uniqKey="Hurles M">ME Hurles</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Kidd, Jm" uniqKey="Kidd J">JM Kidd</name></author><author><name sortKey="Cooper, Gm" uniqKey="Cooper G">GM Cooper</name></author><author><name sortKey="Donahue, Wf" uniqKey="Donahue W">WF Donahue</name></author><author><name sortKey="Hayden, Hs" uniqKey="Hayden H">HS Hayden</name></author><author><name sortKey="Sampas, N" uniqKey="Sampas N">N Sampas</name></author><author><name sortKey="Graves, T" uniqKey="Graves T">T Graves</name></author><author><name sortKey="Hansen, N" uniqKey="Hansen N">N Hansen</name></author><author><name sortKey="Teague, B" uniqKey="Teague B">B Teague</name></author><author><name sortKey="Alkan, C" uniqKey="Alkan C">C Alkan</name></author><author><name sortKey="Antonacci, F" uniqKey="Antonacci F">F Antonacci</name></author><author><name sortKey="Haugen, E" uniqKey="Haugen E">E Haugen</name></author><author><name sortKey="Zerr, T" uniqKey="Zerr T">T Zerr</name></author><author><name sortKey="Yamada, Na" uniqKey="Yamada N">NA Yamada</name></author><author><name sortKey="Tsang, P" uniqKey="Tsang P">P Tsang</name></author><author><name sortKey="Newman, Tl" uniqKey="Newman T">TL Newman</name></author><author><name sortKey="Tuzun, E" uniqKey="Tuzun E">E Tüzün</name></author><author><name sortKey="Cheng, Z" uniqKey="Cheng Z">Z Cheng</name></author><author><name sortKey="Ebling, Hm" uniqKey="Ebling H">HM Ebling</name></author><author><name sortKey="Tusneem, N" uniqKey="Tusneem N">N Tusneem</name></author><author><name sortKey="David, R" uniqKey="David R">R David</name></author><author><name sortKey="Gillett, W" uniqKey="Gillett W">W Gillett</name></author><author><name sortKey="Phelps, Ka" uniqKey="Phelps K">KA Phelps</name></author><author><name sortKey="Weaver, M" uniqKey="Weaver M">M Weaver</name></author><author><name sortKey="Saranga, D" uniqKey="Saranga D">D Saranga</name></author><author><name sortKey="Brand, A" uniqKey="Brand A">A Brand</name></author><author><name sortKey="Tao, W" uniqKey="Tao W">W Tao</name></author><author><name sortKey="Gustafson, E" uniqKey="Gustafson E">E Gustafson</name></author><author><name sortKey="Mckernan, K" uniqKey="Mckernan K">K McKernan</name></author><author><name sortKey="Chen, L" uniqKey="Chen L">L Chen</name></author><author><name sortKey="Malig, M" uniqKey="Malig M">M Malig</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Mccarroll, Sa" uniqKey="Mccarroll S">SA McCarroll</name></author><author><name sortKey="Kuruvilla, Fg" uniqKey="Kuruvilla F">FG Kuruvilla</name></author><author><name sortKey="Korn, Jm" uniqKey="Korn J">JM Korn</name></author><author><name sortKey="Cawley, S" uniqKey="Cawley S">S Cawley</name></author><author><name sortKey="Nemesh, J" uniqKey="Nemesh J">J Nemesh</name></author><author><name sortKey="Wysoker, A" uniqKey="Wysoker A">A Wysoker</name></author><author><name sortKey="Shapero, Mh" uniqKey="Shapero M">MH Shapero</name></author><author><name sortKey="De Bakker, Piw" uniqKey="De Bakker P">PIW de Bakker</name></author><author><name sortKey="Maller, Jb" uniqKey="Maller J">JB Maller</name></author><author><name sortKey="Kirby, A" uniqKey="Kirby A">A Kirby</name></author><author><name sortKey="Elliott, Al" uniqKey="Elliott A">AL Elliott</name></author><author><name sortKey="Parkin, M" uniqKey="Parkin M">M Parkin</name></author><author><name sortKey="Hubbell, E" uniqKey="Hubbell E">E Hubbell</name></author><author><name sortKey="Webster, T" uniqKey="Webster T">T Webster</name></author><author><name sortKey="Mei, R" uniqKey="Mei R">R Mei</name></author><author><name sortKey="Veitch, J" uniqKey="Veitch J">J Veitch</name></author><author><name sortKey="Collins, Pj" uniqKey="Collins P">PJ Collins</name></author><author><name sortKey="Handsaker, R" uniqKey="Handsaker R">R Handsaker</name></author><author><name sortKey="Lincoln, S" uniqKey="Lincoln S">S Lincoln</name></author><author><name sortKey="Nizzari, M" uniqKey="Nizzari M">M Nizzari</name></author><author><name sortKey="Blume, J" uniqKey="Blume J">J Blume</name></author><author><name sortKey="Jones, Kw" uniqKey="Jones K">KW Jones</name></author><author><name sortKey="Rava, R" uniqKey="Rava R">R Rava</name></author><author><name sortKey="Daly, Mj" uniqKey="Daly M">MJ Daly</name></author><author><name sortKey="Gabriel, Sb" uniqKey="Gabriel S">SB Gabriel</name></author><author><name sortKey="Altshuler, D" uniqKey="Altshuler D">D Altshuler</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Sebat, J" uniqKey="Sebat J">J Sebat</name></author><author><name sortKey="Lakshmi, B" uniqKey="Lakshmi B">B Lakshmi</name></author><author><name sortKey="Troge, J" uniqKey="Troge J">J Troge</name></author><author><name sortKey="Alexander, J" uniqKey="Alexander J">J Alexander</name></author><author><name sortKey="Young, J" uniqKey="Young J">J Young</name></author><author><name sortKey="Lundin, P" uniqKey="Lundin P">P Lundin</name></author><author><name sortKey="M Ner, S" uniqKey="M Ner S">S Månér</name></author><author><name sortKey="Massa, H" uniqKey="Massa H">H Massa</name></author><author><name sortKey="Walker, M" uniqKey="Walker M">M Walker</name></author><author><name sortKey="Chi, M" uniqKey="Chi M">M Chi</name></author><author><name sortKey="Navin, N" uniqKey="Navin N">N Navin</name></author><author><name sortKey="Lucito, R" uniqKey="Lucito R">R Lucito</name></author><author><name sortKey="Healy, J" uniqKey="Healy J">J Healy</name></author><author><name sortKey="Hicks, J" uniqKey="Hicks J">J Hicks</name></author><author><name sortKey="Ye, K" uniqKey="Ye K">K Ye</name></author><author><name sortKey="Reiner, A" uniqKey="Reiner A">A Reiner</name></author><author><name sortKey="Gilliam, Tc" uniqKey="Gilliam T">TC Gilliam</name></author><author><name sortKey="Trask, B" uniqKey="Trask B">B Trask</name></author><author><name sortKey="Patterson, N" uniqKey="Patterson N">N Patterson</name></author><author><name sortKey="Zetterberg, A" uniqKey="Zetterberg A">A Zetterberg</name></author><author><name sortKey="Wigler, M" uniqKey="Wigler M">M Wigler</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Pang, Aw" uniqKey="Pang A">AW Pang</name></author><author><name sortKey="Macdonald, Jr" uniqKey="Macdonald J">JR MacDonald</name></author><author><name sortKey="Pinto, D" uniqKey="Pinto D">D Pinto</name></author><author><name sortKey="Wei, J" uniqKey="Wei J">J Wei</name></author><author><name sortKey="Rafiq, Ma" uniqKey="Rafiq M">MA Rafiq</name></author><author><name sortKey="Conrad, Df" uniqKey="Conrad D">DF Conrad</name></author><author><name sortKey="Park, H" uniqKey="Park H">H Park</name></author><author><name sortKey="Hurles, Me" uniqKey="Hurles M">ME Hurles</name></author><author><name sortKey="Lee, C" uniqKey="Lee C">C Lee</name></author><author><name sortKey="Venter, Jc" uniqKey="Venter J">JC Venter</name></author><author><name sortKey="Kirkness, Ef" uniqKey="Kirkness E">EF Kirkness</name></author><author><name sortKey="Levy, S" uniqKey="Levy S">S Levy</name></author><author><name sortKey="Feuk, L" uniqKey="Feuk L">L Feuk</name></author><author><name sortKey="Scherer, Sw" uniqKey="Scherer S">SW Scherer</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Abecasis, Gr" uniqKey="Abecasis G">GR Abecasis</name></author><author><name sortKey="Altshuler, D" uniqKey="Altshuler D">D Altshuler</name></author><author><name sortKey="Auton, A" uniqKey="Auton A">A Auton</name></author><author><name sortKey="Brooks, Ld" uniqKey="Brooks L">LD Brooks</name></author><author><name sortKey="Durbin, Rm" uniqKey="Durbin R">RM Durbin</name></author><author><name sortKey="Gibbs, Ra" uniqKey="Gibbs R">RA Gibbs</name></author><author><name sortKey="Hurles, Me" uniqKey="Hurles M">ME Hurles</name></author><author><name sortKey="Mcvean, Ga" uniqKey="Mcvean G">GA McVean</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Singleton, Ab" uniqKey="Singleton A">AB Singleton</name></author><author><name sortKey="Farrer, M" uniqKey="Farrer M">M Farrer</name></author><author><name sortKey="Johnson, J" uniqKey="Johnson J">J Johnson</name></author><author><name sortKey="Singleton, A" uniqKey="Singleton A">A Singleton</name></author><author><name sortKey="Hague, S" uniqKey="Hague S">S Hague</name></author><author><name sortKey="Kachergus, J" uniqKey="Kachergus J">J Kachergus</name></author><author><name sortKey="Hulihan, M" uniqKey="Hulihan M">M Hulihan</name></author><author><name sortKey="Peuralinna, T" uniqKey="Peuralinna T">T Peuralinna</name></author><author><name sortKey="Dutra, A" uniqKey="Dutra A">A Dutra</name></author><author><name sortKey="Nussbaum, R" uniqKey="Nussbaum R">R Nussbaum</name></author><author><name sortKey="Lincoln, S" uniqKey="Lincoln S">S Lincoln</name></author><author><name sortKey="Crawley, A" uniqKey="Crawley A">A Crawley</name></author><author><name sortKey="Hanson, M" uniqKey="Hanson M">M Hanson</name></author><author><name sortKey="Maraganore, D" uniqKey="Maraganore D">D Maraganore</name></author><author><name sortKey="Adler, C" uniqKey="Adler C">C Adler</name></author><author><name sortKey="Cookson, Mr" uniqKey="Cookson M">MR Cookson</name></author><author><name sortKey="Muenter, M" uniqKey="Muenter M">M Muenter</name></author><author><name sortKey="Baptista, M" uniqKey="Baptista M">M Baptista</name></author><author><name sortKey="Miller, D" uniqKey="Miller D">D Miller</name></author><author><name sortKey="Blancato, J" uniqKey="Blancato J">J Blancato</name></author><author><name sortKey="Hardy, J" uniqKey="Hardy J">J Hardy</name></author><author><name sortKey="Gwinn Hardy, K" uniqKey="Gwinn Hardy K">K Gwinn-Hardy</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Rovelet Lecrux, A" uniqKey="Rovelet Lecrux A">A Rovelet-Lecrux</name></author><author><name sortKey="Hannequin, D" uniqKey="Hannequin D">D Hannequin</name></author><author><name sortKey="Raux, G" uniqKey="Raux G">G Raux</name></author><author><name sortKey="Le Meur, N" uniqKey="Le Meur N">N Le Meur</name></author><author><name sortKey="Laquerriere, A" uniqKey="Laquerriere A">A Laquerrière</name></author><author><name sortKey="Vital, A" uniqKey="Vital A">A Vital</name></author><author><name sortKey="Dumanchin, C" uniqKey="Dumanchin C">C Dumanchin</name></author><author><name sortKey="Feuillette, S" uniqKey="Feuillette S">S Feuillette</name></author><author><name sortKey="Brice, A" uniqKey="Brice A">A Brice</name></author><author><name sortKey="Vercelletto, M" uniqKey="Vercelletto M">M Vercelletto</name></author><author><name sortKey="Dubas, F" uniqKey="Dubas F">F Dubas</name></author><author><name sortKey="Frebourg, T" uniqKey="Frebourg T">T Frebourg</name></author><author><name sortKey="Campion, D" uniqKey="Campion D">D Campion</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Wheeler, Da" uniqKey="Wheeler D">DA Wheeler</name></author><author><name sortKey="Srinivasan, M" uniqKey="Srinivasan M">M Srinivasan</name></author><author><name sortKey="Egholm, M" uniqKey="Egholm M">M Egholm</name></author><author><name sortKey="Shen, Y" uniqKey="Shen Y">Y Shen</name></author><author><name sortKey="Chen, L" uniqKey="Chen L">L Chen</name></author><author><name sortKey="Mcguire, A" uniqKey="Mcguire A">A McGuire</name></author><author><name sortKey="He, W" uniqKey="He W">W He</name></author><author><name sortKey="Chen, Yj" uniqKey="Chen Y">YJ Chen</name></author><author><name sortKey="Makhijani, V" uniqKey="Makhijani V">V Makhijani</name></author><author><name sortKey="Roth, Gt" uniqKey="Roth G">GT Roth</name></author><author><name sortKey="Gomes, X" uniqKey="Gomes X">X Gomes</name></author><author><name sortKey="Tartaro, K" uniqKey="Tartaro K">K Tartaro</name></author><author><name sortKey="Niazi, F" uniqKey="Niazi F">F Niazi</name></author><author><name sortKey="Turcotte, Cl" uniqKey="Turcotte C">CL Turcotte</name></author><author><name sortKey="Irzyk, Gp" uniqKey="Irzyk G">GP Irzyk</name></author><author><name sortKey="Lupski, Jr" uniqKey="Lupski J">JR Lupski</name></author><author><name sortKey="Chinault, C" uniqKey="Chinault C">C Chinault</name></author><author><name sortKey="Song, Xz" uniqKey="Song X">Xz Song</name></author><author><name sortKey="Liu, Y" uniqKey="Liu Y">Y Liu</name></author><author><name sortKey="Yuan, Y" uniqKey="Yuan Y">Y Yuan</name></author><author><name sortKey="Nazareth, L" uniqKey="Nazareth L">L Nazareth</name></author><author><name sortKey="Qin, X" uniqKey="Qin X">X Qin</name></author><author><name sortKey="Muzny, Dm" uniqKey="Muzny D">DM Muzny</name></author><author><name sortKey="Margulies, M" uniqKey="Margulies M">M Margulies</name></author><author><name sortKey="Weinstock, Gm" uniqKey="Weinstock G">GM Weinstock</name></author><author><name sortKey="Gibbs, Ra" uniqKey="Gibbs R">RA Gibbs</name></author><author><name sortKey="Rothberg, Jm" uniqKey="Rothberg J">JM Rothberg</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Bentley, Dr" uniqKey="Bentley D">DR Bentley</name></author><author><name sortKey="Balasubramanian, S" uniqKey="Balasubramanian S">S Balasubramanian</name></author><author><name sortKey="Swerdlow, Hp" uniqKey="Swerdlow H">HP Swerdlow</name></author><author><name sortKey="Smith, Gp" uniqKey="Smith G">GP Smith</name></author><author><name sortKey="Milton, J" uniqKey="Milton J">J Milton</name></author><author><name sortKey="Brown, Cg" uniqKey="Brown C">CG Brown</name></author><author><name sortKey="Hall, Kp" uniqKey="Hall K">KP Hall</name></author><author><name sortKey="Evers, Dj" uniqKey="Evers D">DJ Evers</name></author><author><name sortKey="Barnes, Cl" uniqKey="Barnes C">CL Barnes</name></author><author><name sortKey="Bignell, Hr" uniqKey="Bignell H">HR Bignell</name></author><author><name sortKey="Boutell, Jm" uniqKey="Boutell J">JM Boutell</name></author><author><name sortKey="Bryant, J" uniqKey="Bryant J">J Bryant</name></author><author><name sortKey="Carter, Rj" uniqKey="Carter R">RJ Carter</name></author><author><name sortKey="Keira Cheetham, R" uniqKey="Keira Cheetham R">R Keira Cheetham</name></author><author><name sortKey="Cox, Aj" uniqKey="Cox A">AJ Cox</name></author><author><name sortKey="Ellis, Dj" uniqKey="Ellis D">DJ Ellis</name></author><author><name sortKey="Flatbush, Mr" uniqKey="Flatbush M">MR Flatbush</name></author><author><name sortKey="Gormley, Na" uniqKey="Gormley N">NA Gormley</name></author><author><name sortKey="Humphray, Sj" uniqKey="Humphray S">SJ Humphray</name></author><author><name sortKey="Irving, Lj" uniqKey="Irving L">LJ Irving</name></author><author><name sortKey="Karbelashvili, Ms" uniqKey="Karbelashvili M">MS Karbelashvili</name></author><author><name sortKey="Kirk, Sm" uniqKey="Kirk S">SM Kirk</name></author><author><name sortKey="Li, H" uniqKey="Li H">H Li</name></author><author><name sortKey="Liu, X" uniqKey="Liu X">X Liu</name></author><author><name sortKey="Maisinger, Ks" uniqKey="Maisinger K">KS Maisinger</name></author><author><name sortKey="Murray, Lj" uniqKey="Murray L">LJ Murray</name></author><author><name sortKey="Obradovic, B" uniqKey="Obradovic B">B Obradovic</name></author><author><name sortKey="Ost, T" uniqKey="Ost T">T Ost</name></author><author><name sortKey="Parkinson, Ml" uniqKey="Parkinson M">ML Parkinson</name></author><author><name sortKey="Pratt, Mr" uniqKey="Pratt M">MR Pratt</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Mckernan, Kj" uniqKey="Mckernan K">KJ McKernan</name></author><author><name sortKey="Peckham, He" uniqKey="Peckham H">HE Peckham</name></author><author><name sortKey="Costa, Gl" uniqKey="Costa G">GL Costa</name></author><author><name sortKey="Mclaughlin, Sf" uniqKey="Mclaughlin S">SF McLaughlin</name></author><author><name sortKey="Fu, Y" uniqKey="Fu Y">Y Fu</name></author><author><name sortKey="Tsung, Ef" uniqKey="Tsung E">EF Tsung</name></author><author><name sortKey="Clouser, Cr" uniqKey="Clouser C">CR Clouser</name></author><author><name sortKey="Duncan, C" uniqKey="Duncan C">C Duncan</name></author><author><name sortKey="Ichikawa, Jk" uniqKey="Ichikawa J">JK Ichikawa</name></author><author><name sortKey="Lee, Cc" uniqKey="Lee C">CC Lee</name></author><author><name sortKey="Zhang, Z" uniqKey="Zhang Z">Z Zhang</name></author><author><name sortKey="Ranade, Ss" uniqKey="Ranade S">SS Ranade</name></author><author><name sortKey="Dimalanta, Et" uniqKey="Dimalanta E">ET Dimalanta</name></author><author><name sortKey="Hyland, Fc" uniqKey="Hyland F">FC Hyland</name></author><author><name sortKey="Sokolsky, Td" uniqKey="Sokolsky T">TD Sokolsky</name></author><author><name sortKey="Zhang, L" uniqKey="Zhang L">L Zhang</name></author><author><name sortKey="Sheridan, A" uniqKey="Sheridan A">A Sheridan</name></author><author><name sortKey="Fu, H" uniqKey="Fu H">H Fu</name></author><author><name sortKey="Hendrickson, Cl" uniqKey="Hendrickson C">CL Hendrickson</name></author><author><name sortKey="Li, B" uniqKey="Li B">B Li</name></author><author><name sortKey="Kotler, L" uniqKey="Kotler L">L Kotler</name></author><author><name sortKey="Stuart, Jr" uniqKey="Stuart J">JR Stuart</name></author><author><name sortKey="Malek, Ja" uniqKey="Malek J">JA Malek</name></author><author><name sortKey="Manning, Jm" uniqKey="Manning J">JM Manning</name></author><author><name sortKey="Antipova, Aa" uniqKey="Antipova A">AA Antipova</name></author><author><name sortKey="Perez, Ds" uniqKey="Perez D">DS Perez</name></author><author><name sortKey="Moore, Mp" uniqKey="Moore M">MP Moore</name></author><author><name sortKey="Hayashibara, Kc" uniqKey="Hayashibara K">KC Hayashibara</name></author><author><name sortKey="Lyons, Mr" uniqKey="Lyons M">MR Lyons</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Teer, Jk" uniqKey="Teer J">JK Teer</name></author><author><name sortKey="Mullikin, Jc" uniqKey="Mullikin J">JC Mullikin</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Ng, Sb" uniqKey="Ng S">SB Ng</name></author><author><name sortKey="Turner, Eh" uniqKey="Turner E">EH Turner</name></author><author><name sortKey="Robertson, Pd" uniqKey="Robertson P">PD Robertson</name></author><author><name sortKey="Flygare, Sd" uniqKey="Flygare S">SD Flygare</name></author><author><name sortKey="Bigham, Aw" uniqKey="Bigham A">AW Bigham</name></author><author><name sortKey="Lee, C" uniqKey="Lee C">C Lee</name></author><author><name sortKey="Shaffer, T" uniqKey="Shaffer T">T Shaffer</name></author><author><name sortKey="Wong, M" uniqKey="Wong M">M Wong</name></author><author><name sortKey="Bhattacharjee, A" uniqKey="Bhattacharjee A">A Bhattacharjee</name></author><author><name sortKey="Eichler, Ee" uniqKey="Eichler E">EE Eichler</name></author><author><name sortKey="Bamshad, M" uniqKey="Bamshad M">M Bamshad</name></author><author><name sortKey="Nickerson, Da" uniqKey="Nickerson D">DA Nickerson</name></author><author><name sortKey="Shendure, J" uniqKey="Shendure J">J Shendure</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Hormozdiari, F" uniqKey="Hormozdiari F">F Hormozdiari</name></author><author><name sortKey="Alkan, C" uniqKey="Alkan C">C Alkan</name></author><author><name sortKey="Eichler, Ee" uniqKey="Eichler E">EE Eichler</name></author><author><name sortKey="Sahinalp, Sc" uniqKey="Sahinalp S">SC Sahinalp</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Korbel, Jo" uniqKey="Korbel J">JO Korbel</name></author><author><name sortKey="Abyzov, A" uniqKey="Abyzov A">A Abyzov</name></author><author><name sortKey="Mu, Xj" uniqKey="Mu X">XJ Mu</name></author><author><name sortKey="Carriero, N" uniqKey="Carriero N">N Carriero</name></author><author><name sortKey="Cayting, P" uniqKey="Cayting P">P Cayting</name></author><author><name sortKey="Zhang, Z" uniqKey="Zhang Z">Z Zhang</name></author><author><name sortKey="Snyder, M" uniqKey="Snyder M">M Snyder</name></author><author><name sortKey="Gerstein, Mb" uniqKey="Gerstein M">MB Gerstein</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Karakoc, E" uniqKey="Karakoc E">E Karakoc</name></author><author><name sortKey="Alkan, C" uniqKey="Alkan C">C Alkan</name></author><author><name sortKey="O Oak, Bj" uniqKey="O Oak B">BJ O’Roak</name></author><author><name sortKey="Dennis, My" uniqKey="Dennis M">MY Dennis</name></author><author><name sortKey="Vives, L" uniqKey="Vives L">L Vives</name></author><author><name sortKey="Mark, K" uniqKey="Mark K">K Mark</name></author><author><name sortKey="Rieder, Mj" uniqKey="Rieder M">MJ Rieder</name></author><author><name sortKey="Nickerson, Da" uniqKey="Nickerson D">DA Nickerson</name></author><author><name sortKey="Eichler, Ee" uniqKey="Eichler E">EE Eichler</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Ye, K" uniqKey="Ye K">K Ye</name></author><author><name sortKey="Schulz, Mh" uniqKey="Schulz M">MH Schulz</name></author><author><name sortKey="Long, Q" uniqKey="Long Q">Q Long</name></author><author><name sortKey="Apweiler, R" uniqKey="Apweiler R">R Apweiler</name></author><author><name sortKey="Ning, Z" uniqKey="Ning Z">Z Ning</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Magi, A" uniqKey="Magi A">A Magi</name></author><author><name sortKey="Benelli, M" uniqKey="Benelli M">M Benelli</name></author><author><name sortKey="Yoon, S" uniqKey="Yoon S">S Yoon</name></author><author><name sortKey="Roviello, F" uniqKey="Roviello F">F Roviello</name></author><author><name sortKey="Torricelli, F" uniqKey="Torricelli F">F Torricelli</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Yoon, S" uniqKey="Yoon S">S Yoon</name></author><author><name sortKey="Xuan, Z" uniqKey="Xuan Z">Z Xuan</name></author><author><name sortKey="Makarov, V" uniqKey="Makarov V">V Makarov</name></author><author><name sortKey="Ye, K" uniqKey="Ye K">K Ye</name></author><author><name sortKey="Sebat, J" uniqKey="Sebat J">J Sebat</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Chiang, Dy" uniqKey="Chiang D">DY Chiang</name></author><author><name sortKey="Getz, G" uniqKey="Getz G">G Getz</name></author><author><name sortKey="Jaffe, Db" uniqKey="Jaffe D">DB Jaffe</name></author><author><name sortKey="O Elly, Mjt" uniqKey="O Elly M">MJT O’Kelly</name></author><author><name sortKey="Zhao, X" uniqKey="Zhao X">X Zhao</name></author><author><name sortKey="Carter, Sl" uniqKey="Carter S">SL Carter</name></author><author><name sortKey="Russ, C" uniqKey="Russ C">C Russ</name></author><author><name sortKey="Nusbaum, C" uniqKey="Nusbaum C">C Nusbaum</name></author><author><name sortKey="Meyerson, M" uniqKey="Meyerson M">M Meyerson</name></author><author><name sortKey="Lander, Es" uniqKey="Lander E">ES Lander</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Sathirapongsasuti, Jf" uniqKey="Sathirapongsasuti J">JF Sathirapongsasuti</name></author><author><name sortKey="Lee, H" uniqKey="Lee H">H Lee</name></author><author><name sortKey="Horst, Baj" uniqKey="Horst B">BAJ Horst</name></author><author><name sortKey="Brunner, G" uniqKey="Brunner G">G Brunner</name></author><author><name sortKey="Cochran, Aj" uniqKey="Cochran A">AJ Cochran</name></author><author><name sortKey="Binder, S" uniqKey="Binder S">S Binder</name></author><author><name sortKey="Quackenbush, J" uniqKey="Quackenbush J">J Quackenbush</name></author><author><name sortKey="Nelson, Sf" uniqKey="Nelson S">SF Nelson</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Krumm, N" uniqKey="Krumm N">N Krumm</name></author><author><name sortKey="Sudmant, Ph" uniqKey="Sudmant P">PH Sudmant</name></author><author><name sortKey="Ko, A" uniqKey="Ko A">A Ko</name></author><author><name sortKey="O Oak, Bj" uniqKey="O Oak B">BJ O’Roak</name></author><author><name sortKey="Malig, M" uniqKey="Malig M">M Malig</name></author><author><name sortKey="Coe, Bp" uniqKey="Coe B">BP Coe</name></author><author><name sortKey="Quinlan, Ar" uniqKey="Quinlan A">AR Quinlan</name></author><author><name sortKey="Nickerson, Da" uniqKey="Nickerson D">DA Nickerson</name></author><author><name sortKey="Eichler, Ee" uniqKey="Eichler E">EE Eichler</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Fromer, M" uniqKey="Fromer M">M Fromer</name></author><author><name sortKey="Moran, Jl" uniqKey="Moran J">JL Moran</name></author><author><name sortKey="Chambert, K" uniqKey="Chambert K">K Chambert</name></author><author><name sortKey="Banks, E" uniqKey="Banks E">E Banks</name></author><author><name sortKey="Bergen, Se" uniqKey="Bergen S">SE Bergen</name></author><author><name sortKey="Ruderfer, Dm" uniqKey="Ruderfer D">DM Ruderfer</name></author><author><name sortKey="Handsaker, Re" uniqKey="Handsaker R">RE Handsaker</name></author><author><name sortKey="Mccarroll, Sa" uniqKey="Mccarroll S">SA McCarroll</name></author><author><name sortKey="O Onovan, Mc" uniqKey="O Onovan M">MC O’Donovan</name></author><author><name sortKey="Owen, Mj" uniqKey="Owen M">MJ Owen</name></author><author><name sortKey="Kirov, G" uniqKey="Kirov G">G Kirov</name></author><author><name sortKey="Sullivan, Pf" uniqKey="Sullivan P">PF Sullivan</name></author><author><name sortKey="Hultman, Cm" uniqKey="Hultman C">CM Hultman</name></author><author><name sortKey="Sklar, P" uniqKey="Sklar P">P Sklar</name></author><author><name sortKey="Purcell, Sm" uniqKey="Purcell S">SM Purcell</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Li, J" uniqKey="Li J">J Li</name></author><author><name sortKey="Lupat, R" uniqKey="Lupat R">R Lupat</name></author><author><name sortKey="Amarasinghe, Kc" uniqKey="Amarasinghe K">KC Amarasinghe</name></author><author><name sortKey="Thompson, Er" uniqKey="Thompson E">ER Thompson</name></author><author><name sortKey="Doyle, Ma" uniqKey="Doyle M">MA Doyle</name></author><author><name sortKey="Ryland, Gl" uniqKey="Ryland G">GL Ryland</name></author><author><name sortKey="Tothill, Rw" uniqKey="Tothill R">RW Tothill</name></author><author><name sortKey="Halgamuge, Sk" uniqKey="Halgamuge S">SK Halgamuge</name></author><author><name sortKey="Campbell, Ig" uniqKey="Campbell I">IG Campbell</name></author><author><name sortKey="Gorringe, Kl" uniqKey="Gorringe K">KL Gorringe</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Olshen, Ab" uniqKey="Olshen A">AB Olshen</name></author><author><name sortKey="Venkatraman, Es" uniqKey="Venkatraman E">ES Venkatraman</name></author><author><name sortKey="Lucito, R" uniqKey="Lucito R">R Lucito</name></author><author><name sortKey="Wigler, M" uniqKey="Wigler M">M Wigler</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Koboldt, Dc" uniqKey="Koboldt D">DC Koboldt</name></author><author><name sortKey="Zhang, Q" uniqKey="Zhang Q">Q Zhang</name></author><author><name sortKey="Larson, De" uniqKey="Larson D">DE Larson</name></author><author><name sortKey="Shen, D" uniqKey="Shen D">D Shen</name></author><author><name sortKey="Mclellan, Md" uniqKey="Mclellan M">MD McLellan</name></author><author><name sortKey="Lin, L" uniqKey="Lin L">L Lin</name></author><author><name sortKey="Miller, Ca" uniqKey="Miller C">CA Miller</name></author><author><name sortKey="Mardis, Er" uniqKey="Mardis E">ER Mardis</name></author><author><name sortKey="Ding, L" uniqKey="Ding L">L Ding</name></author><author><name sortKey="Wilson, Rk" uniqKey="Wilson R">RK Wilson</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Magi, A" uniqKey="Magi A">A Magi</name></author><author><name sortKey="Tattini, L" uniqKey="Tattini L">L Tattini</name></author><author><name sortKey="Pippucci, T" uniqKey="Pippucci T">T Pippucci</name></author><author><name sortKey="Torricelli, F" uniqKey="Torricelli F">F Torricelli</name></author><author><name sortKey="Benelli, M" uniqKey="Benelli M">M Benelli</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Harismendy, O" uniqKey="Harismendy O">O Harismendy</name></author><author><name sortKey="Ng, Pc" uniqKey="Ng P">PC Ng</name></author><author><name sortKey="Strausberg, Rl" uniqKey="Strausberg R">RL Strausberg</name></author><author><name sortKey="Wang, X" uniqKey="Wang X">X Wang</name></author><author><name sortKey="Stockwell, Tb" uniqKey="Stockwell T">TB Stockwell</name></author><author><name sortKey="Beeson, Ky" uniqKey="Beeson K">KY Beeson</name></author><author><name sortKey="Schork, Nj" uniqKey="Schork N">NJ Schork</name></author><author><name sortKey="Murray, Ss" uniqKey="Murray S">SS Murray</name></author><author><name sortKey="Topol, Ej" uniqKey="Topol E">EJ Topol</name></author><author><name sortKey="Levy, S" uniqKey="Levy S">S Levy</name></author><author><name sortKey="Frazer, Ka" uniqKey="Frazer K">KA Frazer</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Dohm, Jc" uniqKey="Dohm J">JC Dohm</name></author><author><name sortKey="Lottaz, C" uniqKey="Lottaz C">C Lottaz</name></author><author><name sortKey="Borodina, T" uniqKey="Borodina T">T Borodina</name></author><author><name sortKey="Himmelbauer, H" uniqKey="Himmelbauer H">H Himmelbauer</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Hillier, Lw" uniqKey="Hillier L">LW Hillier</name></author><author><name sortKey="Marth, Gt" uniqKey="Marth G">GT Marth</name></author><author><name sortKey="Quinlan, Ar" uniqKey="Quinlan A">AR Quinlan</name></author><author><name sortKey="Dooling, D" uniqKey="Dooling D">D Dooling</name></author><author><name sortKey="Fewell, G" uniqKey="Fewell G">G Fewell</name></author><author><name sortKey="Barnett, D" uniqKey="Barnett D">D Barnett</name></author><author><name sortKey="Fox, P" uniqKey="Fox P">P Fox</name></author><author><name sortKey="Glasscock, Ji" uniqKey="Glasscock J">JI Glasscock</name></author><author><name sortKey="Hickenbotham, M" uniqKey="Hickenbotham M">M Hickenbotham</name></author><author><name sortKey="Huang, W" uniqKey="Huang W">W Huang</name></author><author><name sortKey="Magrini, Vj" uniqKey="Magrini V">VJ Magrini</name></author><author><name sortKey="Richt, Rj" uniqKey="Richt R">RJ Richt</name></author><author><name sortKey="Sander, Sn" uniqKey="Sander S">SN Sander</name></author><author><name sortKey="Stewart, Da" uniqKey="Stewart D">DA Stewart</name></author><author><name sortKey="Stromberg, M" uniqKey="Stromberg M">M Stromberg</name></author><author><name sortKey="Tsung, Ef" uniqKey="Tsung E">EF Tsung</name></author><author><name sortKey="Wylie, T" uniqKey="Wylie T">T Wylie</name></author><author><name sortKey="Schedl, T" uniqKey="Schedl T">T Schedl</name></author><author><name sortKey="Wilson, Rk" uniqKey="Wilson R">RK Wilson</name></author><author><name sortKey="Mardis, Er" uniqKey="Mardis E">ER Mardis</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Magi, A" uniqKey="Magi A">A Magi</name></author><author><name sortKey="Benelli, M" uniqKey="Benelli M">M Benelli</name></author><author><name sortKey="Marseglia, G" uniqKey="Marseglia G">G Marseglia</name></author><author><name sortKey="Nannetti, G" uniqKey="Nannetti G">G Nannetti</name></author><author><name sortKey="Scordo, Mr" uniqKey="Scordo M">MR Scordo</name></author><author><name sortKey="Torricelli, F" uniqKey="Torricelli F">F Torricelli</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Benelli, M" uniqKey="Benelli M">M Benelli</name></author><author><name sortKey="Marseglia, G" uniqKey="Marseglia G">G Marseglia</name></author><author><name sortKey="Nannetti, G" uniqKey="Nannetti G">G Nannetti</name></author><author><name sortKey="Paravidino, R" uniqKey="Paravidino R">R Paravidino</name></author><author><name sortKey="Zara, F" uniqKey="Zara F">F Zara</name></author><author><name sortKey="Bricarelli, Fd" uniqKey="Bricarelli F">FD Bricarelli</name></author><author><name sortKey="Torricelli, F" uniqKey="Torricelli F">F Torricelli</name></author><author><name sortKey="Magi, A" uniqKey="Magi A">A Magi</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Lai, Wr" uniqKey="Lai W">WR Lai</name></author><author><name sortKey="Johnson, Md" uniqKey="Johnson M">MD Johnson</name></author><author><name sortKey="Kucherlapati, R" uniqKey="Kucherlapati R">R Kucherlapati</name></author><author><name sortKey="Park, Pj" uniqKey="Park P">PJ Park</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Stark, M" uniqKey="Stark M">M Stark</name></author><author><name sortKey="Hayward, N" uniqKey="Hayward N">N Hayward</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Clark, Mj" uniqKey="Clark M">MJ Clark</name></author><author><name sortKey="Chen, R" uniqKey="Chen R">R Chen</name></author><author><name sortKey="Lam, Hyk" uniqKey="Lam H">HYK Lam</name></author><author><name sortKey="Karczewski, Kj" uniqKey="Karczewski K">KJ Karczewski</name></author><author><name sortKey="Chen, R" uniqKey="Chen R">R Chen</name></author><author><name sortKey="Euskirchen, G" uniqKey="Euskirchen G">G Euskirchen</name></author><author><name sortKey="Butte, Aj" uniqKey="Butte A">AJ Butte</name></author><author><name sortKey="Snyder, M" uniqKey="Snyder M">M Snyder</name></author></analytic></biblStruct><biblStruct></biblStruct><biblStruct><analytic><author><name sortKey="Cooper, Gm" uniqKey="Cooper G">GM Cooper</name></author><author><name sortKey="Coe, Bp" uniqKey="Coe B">BP Coe</name></author><author><name sortKey="Girirajan, S" uniqKey="Girirajan S">S Girirajan</name></author><author><name sortKey="Rosenfeld, Ja" uniqKey="Rosenfeld J">JA Rosenfeld</name></author><author><name sortKey="Vu, Th" uniqKey="Vu T">TH Vu</name></author><author><name sortKey="Baker, C" uniqKey="Baker C">C Baker</name></author><author><name sortKey="Williams, C" uniqKey="Williams C">C Williams</name></author><author><name sortKey="Stalker, H" uniqKey="Stalker H">H Stalker</name></author><author><name sortKey="Hamid, R" uniqKey="Hamid R">R Hamid</name></author><author><name sortKey="Hannig, V" uniqKey="Hannig V">V Hannig</name></author><author><name sortKey="Abdel Hamid, H" uniqKey="Abdel Hamid H">H Abdel-Hamid</name></author><author><name sortKey="Bader, P" uniqKey="Bader P">P Bader</name></author><author><name sortKey="Mccracken, E" uniqKey="Mccracken E">E McCracken</name></author><author><name sortKey="Niyazov, D" uniqKey="Niyazov D">D Niyazov</name></author><author><name sortKey="Leppig, K" uniqKey="Leppig K">K Leppig</name></author><author><name sortKey="Thiese, H" uniqKey="Thiese H">H Thiese</name></author><author><name sortKey="Hummel, M" uniqKey="Hummel M">M Hummel</name></author><author><name sortKey="Alexander, N" uniqKey="Alexander N">N Alexander</name></author><author><name sortKey="Gorski, J" uniqKey="Gorski J">J Gorski</name></author><author><name sortKey="Kussmann, J" uniqKey="Kussmann J">J Kussmann</name></author><author><name sortKey="Shashi, V" uniqKey="Shashi V">V Shashi</name></author><author><name sortKey="Johnson, K" uniqKey="Johnson K">K Johnson</name></author><author><name sortKey="Rehder, C" uniqKey="Rehder C">C Rehder</name></author><author><name sortKey="Ballif, Bc" uniqKey="Ballif B">BC Ballif</name></author><author><name sortKey="Shaffer, Lg" uniqKey="Shaffer L">LG Shaffer</name></author><author><name sortKey="Eichler, Ee" uniqKey="Eichler E">EE Eichler</name></author></analytic></biblStruct><biblStruct></biblStruct><biblStruct><analytic><author><name sortKey="Langmead, B" uniqKey="Langmead B">B Langmead</name></author><author><name sortKey="Salzberg, Sl" uniqKey="Salzberg S">SL Salzberg</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Li, R" uniqKey="Li R">R Li</name></author><author><name sortKey="Yu, C" uniqKey="Yu C">C Yu</name></author><author><name sortKey="Li, Y" uniqKey="Li Y">Y Li</name></author><author><name sortKey="Lam, Tw" uniqKey="Lam T">TW Lam</name></author><author><name sortKey="Yiu, Sm" uniqKey="Yiu S">SM Yiu</name></author><author><name sortKey="Kristiansen, K" uniqKey="Kristiansen K">K Kristiansen</name></author><author><name sortKey="Wang, J" uniqKey="Wang J">J Wang</name></author></analytic></biblStruct><biblStruct></biblStruct><biblStruct><analytic><author><name sortKey="Li, H" uniqKey="Li H">H Li</name></author><author><name sortKey="Handsaker, B" uniqKey="Handsaker B">B Handsaker</name></author><author><name sortKey="Wysoker, A" uniqKey="Wysoker A">A Wysoker</name></author><author><name sortKey="Fennell, T" uniqKey="Fennell T">T Fennell</name></author><author><name sortKey="Ruan, J" uniqKey="Ruan J">J Ruan</name></author><author><name sortKey="Homer, N" uniqKey="Homer N">N Homer</name></author><author><name sortKey="Marth, G" uniqKey="Marth G">G Marth</name></author><author><name sortKey="Abecasis, G" uniqKey="Abecasis G">G Abecasis</name></author><author><name sortKey="Durbin, R" uniqKey="Durbin R">R Durbin</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Mckenna, A" uniqKey="Mckenna A">A McKenna</name></author><author><name sortKey="Hanna, M" uniqKey="Hanna M">M Hanna</name></author><author><name 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<front><journal-meta><journal-id journal-id-type="nlm-ta">Genome Biol</journal-id><journal-id journal-id-type="iso-abbrev">Genome Biol</journal-id><journal-title-group><journal-title>Genome Biology</journal-title></journal-title-group><issn pub-type="ppub">1465-6906</issn><issn pub-type="epub">1465-6914</issn><publisher><publisher-name>BioMed Central</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">24172663</article-id><article-id pub-id-type="pmc">4053953</article-id><article-id pub-id-type="publisher-id">gb-2013-14-10-r120</article-id><article-id pub-id-type="doi">10.1186/gb-2013-14-10-r120</article-id><article-categories><subj-group subj-group-type="heading"><subject>Method</subject></subj-group></article-categories><title-group><article-title>EXCAVATOR: detecting copy number variants from whole-exome sequencing data</article-title></title-group><contrib-group><contrib contrib-type="author" corresp="yes" equal-contrib="yes" id="A1"><name><surname>Magi</surname><given-names>Alberto</given-names></name><xref ref-type="aff" rid="I1">1</xref><email>albertomagi@gmail.com</email></contrib><contrib contrib-type="author" corresp="yes" equal-contrib="yes" id="A2"><name><surname>Tattini</surname><given-names>Lorenzo</given-names></name><xref ref-type="aff" rid="I1">1</xref><xref ref-type="aff" rid="I2">2</xref><email>lorenzotattini@gmail.com</email></contrib><contrib contrib-type="author" id="A3"><name><surname>Cifola</surname><given-names>Ingrid</given-names></name><xref ref-type="aff" rid="I3">3</xref><email>ingrid.cifola@itb.cnr.it</email></contrib><contrib contrib-type="author" id="A4"><name><surname>D’Aurizio</surname><given-names>Romina</given-names></name><xref ref-type="aff" rid="I4">4</xref><email>romina.daurizio@gmail.com</email></contrib><contrib contrib-type="author" id="A5"><name><surname>Benelli</surname><given-names>Matteo</given-names></name><xref ref-type="aff" rid="I5">5</xref><email>matteo.benelli@gmail.com</email></contrib><contrib contrib-type="author" id="A6"><name><surname>Mangano</surname><given-names>Eleonora</given-names></name><xref ref-type="aff" rid="I3">3</xref><email>eleonora.mangano@itb.cnr.it</email></contrib><contrib contrib-type="author" id="A7"><name><surname>Battaglia</surname><given-names>Cristina</given-names></name><xref ref-type="aff" rid="I3">3</xref><xref ref-type="aff" rid="I6">6</xref><email>cristina.battaglia@unimi.it</email></contrib><contrib contrib-type="author" id="A8"><name><surname>Bonora</surname><given-names>Elena</given-names></name><xref ref-type="aff" rid="I7">7</xref><email>elena.bonora6@unibo.it</email></contrib><contrib contrib-type="author" id="A9"><name><surname>Kurg</surname><given-names>Ants</given-names></name><xref ref-type="aff" rid="I8">8</xref><email>akurg@ebc.ee</email></contrib><contrib contrib-type="author" id="A10"><name><surname>Seri</surname><given-names>Marco</given-names></name><xref ref-type="aff" rid="I7">7</xref><email>marco.seri@unibo.it</email></contrib><contrib contrib-type="author" id="A11"><name><surname>Magini</surname><given-names>Pamela</given-names></name><xref ref-type="aff" rid="I7">7</xref><email>pamela.magini@unibo.it</email></contrib><contrib contrib-type="author" id="A12"><name><surname>Giusti</surname><given-names>Betti</given-names></name><xref ref-type="aff" rid="I1">1</xref><email>betti.giusti@unifi.it</email></contrib><contrib contrib-type="author" id="A13"><name><surname>Romeo</surname><given-names>Giovanni</given-names></name><xref ref-type="aff" rid="I7">7</xref><email>egf.giovanni.romeo@gmail.com</email></contrib><contrib contrib-type="author" id="A14"><name><surname>Pippucci</surname><given-names>Tommaso</given-names></name><xref ref-type="aff" rid="I7">7</xref><email>tommaso.pippucci@gmail.com</email></contrib><contrib contrib-type="author" id="A15"><name><surname>Bellis</surname><given-names>Gianluca De</given-names></name><xref ref-type="aff" rid="I3">3</xref><email>gianluca.debellis@itb.cnr.it</email></contrib><contrib contrib-type="author" id="A16"><name><surname>Abbate</surname><given-names>Rosanna</given-names></name><xref ref-type="aff" rid="I1">1</xref><email>rosanna.abbate@unifi.it</email></contrib><contrib contrib-type="author" id="A17"><name><surname>Gensini</surname><given-names>Gian Franco</given-names></name><xref ref-type="aff" rid="I1">1</xref><email>gfgensini@gmail.com</email></contrib></contrib-group><aff id="I1"><label>1</label>Department of Clinical and Experimental Medicine, University of Florence, Florence, Italy</aff><aff id="I2"><label>2</label>Laboratory of Molecular Genetics, G. Gaslini Institute, Genoa, Italy</aff><aff id="I3"><label>3</label>Institute for Biomedical Technologies, National Research Council, Segrate, Milano, Italy</aff><aff id="I4"><label>4</label>Laboratory of Integrative Systems Medicine (LISM), Institute of Informatics and Telematics and Institute of Clinical Physiology, National Research Council, Pisa, Italy</aff><aff id="I5"><label>5</label>Diagnostic Genetic Unit, Careggi Hospital, Florence, Italy</aff><aff id="I6"><label>6</label>Dipartimento di Biotecnologie Mediche e Medicina Traslazionale (BIOMETRA), University of Milan, Milan, Italy</aff><aff id="I7"><label>7</label>Medical Genetics Unit, Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy</aff><aff id="I8"><label>8</label>Institute of Molecular and Cell Biology, University of Tartu, Tartu, Estonia</aff><pub-date pub-type="ppub"><year>2013</year></pub-date><pub-date pub-type="epub"><day>30</day><month>10</month><year>2013</year></pub-date><volume>14</volume><issue>10</issue><fpage>R120</fpage><lpage>R120</lpage><history><date date-type="received"><day>15</day><month>6</month><year>2013</year></date><date date-type="accepted"><day>30</day><month>10</month><year>2013</year></date></history><permissions><copyright-statement>Copyright © 2013 Magi et al.; licensee BioMed Central Ltd.</copyright-statement><copyright-year>2013</copyright-year><copyright-holder>Magi et al.; licensee BioMed Central Ltd.</copyright-holder><license license-type="open-access" xlink:href="http://creativecommons.org/licenses/by/2.0"><license-p>This is an Open Access article distributed under the terms of the Creative Commons Attribution License (<ext-link ext-link-type="uri" xlink:href="http://creativecommons.org/licenses/by/2.0">http://creativecommons.org/licenses/by/2.0</ext-link>), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.</license-p></license></permissions><self-uri xlink:href="http://genomebiology.com/2013/14/10/R120"></self-uri><abstract><sec><title></title><p>We developed a novel software tool, EXCAVATOR, for the detection of copy number variants (CNVs) from whole-exome sequencing data. EXCAVATOR combines a three-step normalization procedure with a novel heterogeneous hidden Markov model algorithm and a calling method that classifies genomic regions into five copy number states. We validate EXCAVATOR on three datasets and compare the results with three other methods. These analyses show that EXCAVATOR outperforms the other methods and is therefore a valuable tool for the investigation of CNVs in largescale projects, as well as in clinical research and diagnostics. EXCAVATOR is freely available at <ext-link ext-link-type="uri" xlink:href="http://sourceforge.net/projects/excavatortool/">http://sourceforge.net/projects/excavatortool/</ext-link>.</p></sec></abstract></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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