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Mutation discovery in mice by whole exome sequencing

Identifieur interne : 004D00 ( Main/Exploration ); précédent : 004C99; suivant : 004D01

Mutation discovery in mice by whole exome sequencing

Auteurs : Heather Fairfield [États-Unis] ; Griffith J. Gilbert [États-Unis] ; Mary Barter [États-Unis] ; Rebecca R. Corrigan [États-Unis] ; Michelle Curtain [États-Unis] ; Yueming Ding [États-Unis] ; Mark D'Ascenzo [États-Unis] ; Daniel J. Gerhardt [États-Unis] ; Chao He [Espagne] ; Wenhui Huang [Australie] ; Todd Richmond [États-Unis] ; Lucy Rowe [États-Unis] ; Frank J. Probst [États-Unis] ; David E. Bergstrom [États-Unis] ; Stephen A. Murray [États-Unis] ; Carol Bult [États-Unis] ; Joel Richardson [États-Unis] ; Benjamin T. Kile [États-Unis] ; Ivo Gut [États-Unis] ; Jorg Hager [États-Unis] ; Snaevar Sigurdsson [États-Unis] ; Evan Mauceli [États-Unis] ; Federica Di Palma [États-Unis] ; Kerstin Lindblad-Toh [États-Unis] ; Michael L. Cunningham [États-Unis] ; Timothy C. Cox [États-Unis] ; Monica J. Justice [États-Unis] ; Mona S. Spector [Espagne] ; Scott W. Lowe [Espagne] ; Thomas Albert [États-Unis] ; Leah Rae Donahue [États-Unis] ; Jeffrey Jeddeloh [États-Unis] ; Jay Shendure [États-Unis] ; Laura G. Reinholdt [États-Unis]

Source :

RBID : PMC:3308049

Abstract

We report the development and optimization of reagents for in-solution, hybridization-based capture of the mouse exome. By validating this approach in a multiple inbred strains and in novel mutant strains, we show that whole exome sequencing is a robust approach for discovery of putative mutations, irrespective of strain background. We found strong candidate mutations for the majority of mutant exomes sequenced, including new models of orofacial clefting, urogenital dysmorphology, kyphosis and autoimmune hepatitis.


Url:
DOI: 10.1186/gb-2011-12-9-r86
PubMed: 21917142
PubMed Central: 3308049


Affiliations:


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Le document en format XML

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<title xml:lang="en" level="a" type="main">Mutation discovery in mice by whole exome sequencing</title>
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<name sortKey="Fairfield, Heather" sort="Fairfield, Heather" uniqKey="Fairfield H" first="Heather" last="Fairfield">Heather Fairfield</name>
<affiliation wicri:level="1">
<nlm:aff id="I1">The Jackson Laboratory, 600 Main St, Bar Harbor, ME 04609, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>The Jackson Laboratory, 600 Main St, Bar Harbor, ME 04609</wicri:regionArea>
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</affiliation>
</author>
<author>
<name sortKey="Gilbert, Griffith J" sort="Gilbert, Griffith J" uniqKey="Gilbert G" first="Griffith J" last="Gilbert">Griffith J. Gilbert</name>
<affiliation wicri:level="1">
<nlm:aff id="I1">The Jackson Laboratory, 600 Main St, Bar Harbor, ME 04609, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>The Jackson Laboratory, 600 Main St, Bar Harbor, ME 04609</wicri:regionArea>
<wicri:noRegion>ME 04609</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Barter, Mary" sort="Barter, Mary" uniqKey="Barter M" first="Mary" last="Barter">Mary Barter</name>
<affiliation wicri:level="1">
<nlm:aff id="I1">The Jackson Laboratory, 600 Main St, Bar Harbor, ME 04609, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>The Jackson Laboratory, 600 Main St, Bar Harbor, ME 04609</wicri:regionArea>
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</affiliation>
</author>
<author>
<name sortKey="Corrigan, Rebecca R" sort="Corrigan, Rebecca R" uniqKey="Corrigan R" first="Rebecca R" last="Corrigan">Rebecca R. Corrigan</name>
<affiliation wicri:level="1">
<nlm:aff id="I2">Baylor College of Medicine, Department of Molecular and Human Genetics, One Baylor Plaza R804, Houston, Texas 77030, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Baylor College of Medicine, Department of Molecular and Human Genetics, One Baylor Plaza R804, Houston, Texas 77030</wicri:regionArea>
<wicri:noRegion>Texas 77030</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Curtain, Michelle" sort="Curtain, Michelle" uniqKey="Curtain M" first="Michelle" last="Curtain">Michelle Curtain</name>
<affiliation wicri:level="1">
<nlm:aff id="I1">The Jackson Laboratory, 600 Main St, Bar Harbor, ME 04609, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>The Jackson Laboratory, 600 Main St, Bar Harbor, ME 04609</wicri:regionArea>
<wicri:noRegion>ME 04609</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Ding, Yueming" sort="Ding, Yueming" uniqKey="Ding Y" first="Yueming" last="Ding">Yueming Ding</name>
<affiliation wicri:level="1">
<nlm:aff id="I3">Cold Spring Harbor Laboratory, One Bungtown Road, Cold Spring Harbor, NY 11724, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Cold Spring Harbor Laboratory, One Bungtown Road, Cold Spring Harbor, NY 11724</wicri:regionArea>
<wicri:noRegion>NY 11724</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="D Ascenzo, Mark" sort="D Ascenzo, Mark" uniqKey="D Ascenzo M" first="Mark" last="D'Ascenzo">Mark D'Ascenzo</name>
<affiliation wicri:level="1">
<nlm:aff id="I4">Roche NimbleGen, Inc. Madison, WI 53719, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Roche NimbleGen, Inc. Madison, WI 53719</wicri:regionArea>
<wicri:noRegion>WI 53719</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Gerhardt, Daniel J" sort="Gerhardt, Daniel J" uniqKey="Gerhardt D" first="Daniel J" last="Gerhardt">Daniel J. Gerhardt</name>
<affiliation wicri:level="1">
<nlm:aff id="I4">Roche NimbleGen, Inc. Madison, WI 53719, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Roche NimbleGen, Inc. Madison, WI 53719</wicri:regionArea>
<wicri:noRegion>WI 53719</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="He, Chao" sort="He, Chao" uniqKey="He C" first="Chao" last="He">Chao He</name>
<affiliation wicri:level="1">
<nlm:aff id="I5">National Center for Genome Analysis (CNAG), Parc Científic de Barcelona, Torre I, Baldiri Reixac, 408028 Barcelona, Spain</nlm:aff>
<country xml:lang="fr">Espagne</country>
<wicri:regionArea>National Center for Genome Analysis (CNAG), Parc Científic de Barcelona, Torre I, Baldiri Reixac, 408028 Barcelona</wicri:regionArea>
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<settlement type="city">Barcelone</settlement>
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</placeName>
</affiliation>
</author>
<author>
<name sortKey="Huang, Wenhui" sort="Huang, Wenhui" uniqKey="Huang W" first="Wenhui" last="Huang">Wenhui Huang</name>
<affiliation wicri:level="1">
<nlm:aff id="I6">Walter and Eliza Hall Institute, 1G Royal Parade, Parkville, Victoria 3052, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Walter and Eliza Hall Institute, 1G Royal Parade, Parkville, Victoria 3052</wicri:regionArea>
<wicri:noRegion>Victoria 3052</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Richmond, Todd" sort="Richmond, Todd" uniqKey="Richmond T" first="Todd" last="Richmond">Todd Richmond</name>
<affiliation wicri:level="1">
<nlm:aff id="I4">Roche NimbleGen, Inc. Madison, WI 53719, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Roche NimbleGen, Inc. Madison, WI 53719</wicri:regionArea>
<wicri:noRegion>WI 53719</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Rowe, Lucy" sort="Rowe, Lucy" uniqKey="Rowe L" first="Lucy" last="Rowe">Lucy Rowe</name>
<affiliation wicri:level="1">
<nlm:aff id="I1">The Jackson Laboratory, 600 Main St, Bar Harbor, ME 04609, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>The Jackson Laboratory, 600 Main St, Bar Harbor, ME 04609</wicri:regionArea>
<wicri:noRegion>ME 04609</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Probst, Frank J" sort="Probst, Frank J" uniqKey="Probst F" first="Frank J" last="Probst">Frank J. Probst</name>
<affiliation wicri:level="1">
<nlm:aff id="I2">Baylor College of Medicine, Department of Molecular and Human Genetics, One Baylor Plaza R804, Houston, Texas 77030, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Baylor College of Medicine, Department of Molecular and Human Genetics, One Baylor Plaza R804, Houston, Texas 77030</wicri:regionArea>
<wicri:noRegion>Texas 77030</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Bergstrom, David E" sort="Bergstrom, David E" uniqKey="Bergstrom D" first="David E" last="Bergstrom">David E. Bergstrom</name>
<affiliation wicri:level="1">
<nlm:aff id="I1">The Jackson Laboratory, 600 Main St, Bar Harbor, ME 04609, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>The Jackson Laboratory, 600 Main St, Bar Harbor, ME 04609</wicri:regionArea>
<wicri:noRegion>ME 04609</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Murray, Stephen A" sort="Murray, Stephen A" uniqKey="Murray S" first="Stephen A" last="Murray">Stephen A. Murray</name>
<affiliation wicri:level="1">
<nlm:aff id="I1">The Jackson Laboratory, 600 Main St, Bar Harbor, ME 04609, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>The Jackson Laboratory, 600 Main St, Bar Harbor, ME 04609</wicri:regionArea>
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</affiliation>
</author>
<author>
<name sortKey="Bult, Carol" sort="Bult, Carol" uniqKey="Bult C" first="Carol" last="Bult">Carol Bult</name>
<affiliation wicri:level="1">
<nlm:aff id="I1">The Jackson Laboratory, 600 Main St, Bar Harbor, ME 04609, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>The Jackson Laboratory, 600 Main St, Bar Harbor, ME 04609</wicri:regionArea>
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</affiliation>
</author>
<author>
<name sortKey="Richardson, Joel" sort="Richardson, Joel" uniqKey="Richardson J" first="Joel" last="Richardson">Joel Richardson</name>
<affiliation wicri:level="1">
<nlm:aff id="I1">The Jackson Laboratory, 600 Main St, Bar Harbor, ME 04609, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>The Jackson Laboratory, 600 Main St, Bar Harbor, ME 04609</wicri:regionArea>
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</affiliation>
</author>
<author>
<name sortKey="Kile, Benjamin T" sort="Kile, Benjamin T" uniqKey="Kile B" first="Benjamin T" last="Kile">Benjamin T. Kile</name>
<affiliation wicri:level="4">
<nlm:aff id="I7">University of Washington, Department of Pediatrics, Division of Craniofacial Medicine and Seattle Children's Craniofacial Center, 4800 Sand Point Way NE, Seattle, WA 98105, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>University of Washington, Department of Pediatrics, Division of Craniofacial Medicine and Seattle Children's Craniofacial Center, 4800 Sand Point Way NE, Seattle, WA 98105</wicri:regionArea>
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<placeName>
<settlement type="city">Seattle</settlement>
<region type="state">Washington (État)</region>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Gut, Ivo" sort="Gut, Ivo" uniqKey="Gut I" first="Ivo" last="Gut">Ivo Gut</name>
<affiliation wicri:level="1">
<nlm:aff id="I8">Regeneron Pharmaceuticals Inc., 777 Old Saw Mill River Road, Tarrytown, NY 10591, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Regeneron Pharmaceuticals Inc., 777 Old Saw Mill River Road, Tarrytown, NY 10591</wicri:regionArea>
<wicri:noRegion>NY 10591</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Hager, Jorg" sort="Hager, Jorg" uniqKey="Hager J" first="Jorg" last="Hager">Jorg Hager</name>
<affiliation wicri:level="1">
<nlm:aff id="I8">Regeneron Pharmaceuticals Inc., 777 Old Saw Mill River Road, Tarrytown, NY 10591, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Regeneron Pharmaceuticals Inc., 777 Old Saw Mill River Road, Tarrytown, NY 10591</wicri:regionArea>
<wicri:noRegion>NY 10591</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Sigurdsson, Snaevar" sort="Sigurdsson, Snaevar" uniqKey="Sigurdsson S" first="Snaevar" last="Sigurdsson">Snaevar Sigurdsson</name>
<affiliation wicri:level="1">
<nlm:aff id="I9">Broad Institute of Massachusetts Institute of Technology and Harvard, 5 Cambridge Center, Cambridge, MA 02142, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Broad Institute of Massachusetts Institute of Technology and Harvard, 5 Cambridge Center, Cambridge, MA 02142</wicri:regionArea>
<wicri:noRegion>MA 02142</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Mauceli, Evan" sort="Mauceli, Evan" uniqKey="Mauceli E" first="Evan" last="Mauceli">Evan Mauceli</name>
<affiliation wicri:level="1">
<nlm:aff id="I9">Broad Institute of Massachusetts Institute of Technology and Harvard, 5 Cambridge Center, Cambridge, MA 02142, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Broad Institute of Massachusetts Institute of Technology and Harvard, 5 Cambridge Center, Cambridge, MA 02142</wicri:regionArea>
<wicri:noRegion>MA 02142</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Di Palma, Federica" sort="Di Palma, Federica" uniqKey="Di Palma F" first="Federica" last="Di Palma">Federica Di Palma</name>
<affiliation wicri:level="1">
<nlm:aff id="I9">Broad Institute of Massachusetts Institute of Technology and Harvard, 5 Cambridge Center, Cambridge, MA 02142, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Broad Institute of Massachusetts Institute of Technology and Harvard, 5 Cambridge Center, Cambridge, MA 02142</wicri:regionArea>
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</affiliation>
</author>
<author>
<name sortKey="Lindblad Toh, Kerstin" sort="Lindblad Toh, Kerstin" uniqKey="Lindblad Toh K" first="Kerstin" last="Lindblad-Toh">Kerstin Lindblad-Toh</name>
<affiliation wicri:level="1">
<nlm:aff id="I9">Broad Institute of Massachusetts Institute of Technology and Harvard, 5 Cambridge Center, Cambridge, MA 02142, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Broad Institute of Massachusetts Institute of Technology and Harvard, 5 Cambridge Center, Cambridge, MA 02142</wicri:regionArea>
<wicri:noRegion>MA 02142</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Cunningham, Michael L" sort="Cunningham, Michael L" uniqKey="Cunningham M" first="Michael L" last="Cunningham">Michael L. Cunningham</name>
<affiliation wicri:level="4">
<nlm:aff id="I10">University of Washington, Department of Genome Sciences, Foege Building S-250, Box 355065, 3720 15th Ave NE, Seattle, WA 98195-5065, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>University of Washington, Department of Genome Sciences, Foege Building S-250, Box 355065, 3720 15th Ave NE, Seattle, WA 98195-5065</wicri:regionArea>
<orgName type="university">Université de Washington</orgName>
<placeName>
<settlement type="city">Seattle</settlement>
<region type="state">Washington (État)</region>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Cox, Timothy C" sort="Cox, Timothy C" uniqKey="Cox T" first="Timothy C" last="Cox">Timothy C. Cox</name>
<affiliation wicri:level="4">
<nlm:aff id="I10">University of Washington, Department of Genome Sciences, Foege Building S-250, Box 355065, 3720 15th Ave NE, Seattle, WA 98195-5065, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>University of Washington, Department of Genome Sciences, Foege Building S-250, Box 355065, 3720 15th Ave NE, Seattle, WA 98195-5065</wicri:regionArea>
<orgName type="university">Université de Washington</orgName>
<placeName>
<settlement type="city">Seattle</settlement>
<region type="state">Washington (État)</region>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Justice, Monica J" sort="Justice, Monica J" uniqKey="Justice M" first="Monica J" last="Justice">Monica J. Justice</name>
<affiliation wicri:level="1">
<nlm:aff id="I2">Baylor College of Medicine, Department of Molecular and Human Genetics, One Baylor Plaza R804, Houston, Texas 77030, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Baylor College of Medicine, Department of Molecular and Human Genetics, One Baylor Plaza R804, Houston, Texas 77030</wicri:regionArea>
<wicri:noRegion>Texas 77030</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Spector, Mona S" sort="Spector, Mona S" uniqKey="Spector M" first="Mona S" last="Spector">Mona S. Spector</name>
<affiliation wicri:level="1">
<nlm:aff id="I5">National Center for Genome Analysis (CNAG), Parc Científic de Barcelona, Torre I, Baldiri Reixac, 408028 Barcelona, Spain</nlm:aff>
<country xml:lang="fr">Espagne</country>
<wicri:regionArea>National Center for Genome Analysis (CNAG), Parc Científic de Barcelona, Torre I, Baldiri Reixac, 408028 Barcelona</wicri:regionArea>
<placeName>
<settlement type="city">Barcelone</settlement>
<region nuts="2" type="region">Catalogne</region>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Lowe, Scott W" sort="Lowe, Scott W" uniqKey="Lowe S" first="Scott W" last="Lowe">Scott W. Lowe</name>
<affiliation wicri:level="1">
<nlm:aff id="I5">National Center for Genome Analysis (CNAG), Parc Científic de Barcelona, Torre I, Baldiri Reixac, 408028 Barcelona, Spain</nlm:aff>
<country xml:lang="fr">Espagne</country>
<wicri:regionArea>National Center for Genome Analysis (CNAG), Parc Científic de Barcelona, Torre I, Baldiri Reixac, 408028 Barcelona</wicri:regionArea>
<placeName>
<settlement type="city">Barcelone</settlement>
<region nuts="2" type="region">Catalogne</region>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Albert, Thomas" sort="Albert, Thomas" uniqKey="Albert T" first="Thomas" last="Albert">Thomas Albert</name>
<affiliation wicri:level="1">
<nlm:aff id="I4">Roche NimbleGen, Inc. Madison, WI 53719, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Roche NimbleGen, Inc. Madison, WI 53719</wicri:regionArea>
<wicri:noRegion>WI 53719</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Donahue, Leah Rae" sort="Donahue, Leah Rae" uniqKey="Donahue L" first="Leah Rae" last="Donahue">Leah Rae Donahue</name>
<affiliation wicri:level="1">
<nlm:aff id="I1">The Jackson Laboratory, 600 Main St, Bar Harbor, ME 04609, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>The Jackson Laboratory, 600 Main St, Bar Harbor, ME 04609</wicri:regionArea>
<wicri:noRegion>ME 04609</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Jeddeloh, Jeffrey" sort="Jeddeloh, Jeffrey" uniqKey="Jeddeloh J" first="Jeffrey" last="Jeddeloh">Jeffrey Jeddeloh</name>
<affiliation wicri:level="1">
<nlm:aff id="I4">Roche NimbleGen, Inc. Madison, WI 53719, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Roche NimbleGen, Inc. Madison, WI 53719</wicri:regionArea>
<wicri:noRegion>WI 53719</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Shendure, Jay" sort="Shendure, Jay" uniqKey="Shendure J" first="Jay" last="Shendure">Jay Shendure</name>
<affiliation wicri:level="4">
<nlm:aff id="I10">University of Washington, Department of Genome Sciences, Foege Building S-250, Box 355065, 3720 15th Ave NE, Seattle, WA 98195-5065, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>University of Washington, Department of Genome Sciences, Foege Building S-250, Box 355065, 3720 15th Ave NE, Seattle, WA 98195-5065</wicri:regionArea>
<orgName type="university">Université de Washington</orgName>
<placeName>
<settlement type="city">Seattle</settlement>
<region type="state">Washington (État)</region>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Reinholdt, Laura G" sort="Reinholdt, Laura G" uniqKey="Reinholdt L" first="Laura G" last="Reinholdt">Laura G. Reinholdt</name>
<affiliation wicri:level="1">
<nlm:aff id="I1">The Jackson Laboratory, 600 Main St, Bar Harbor, ME 04609, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>The Jackson Laboratory, 600 Main St, Bar Harbor, ME 04609</wicri:regionArea>
<wicri:noRegion>ME 04609</wicri:noRegion>
</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="2011">2011</date>
</imprint>
</series>
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<textClass></textClass>
</profileDesc>
</teiHeader>
<front>
<div type="abstract" xml:lang="en">
<p>We report the development and optimization of reagents for in-solution, hybridization-based capture of the mouse exome. By validating this approach in a multiple inbred strains and in novel mutant strains, we show that whole exome sequencing is a robust approach for discovery of putative mutations, irrespective of strain background. We found strong candidate mutations for the majority of mutant exomes sequenced, including new models of orofacial clefting, urogenital dysmorphology, kyphosis and autoimmune hepatitis.</p>
</div>
</front>
<back>
<div1 type="bibliography">
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