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A semiautomated whole-exome sequencing workflow leads to increased diagnostic yield and identification of novel candidate variants.

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Title: A semiautomated whole-exome sequencing workflow leads to increased diagnostic yield and identification of novel candidate variants.
Authors: Ji J; Center for Personalized Medicine, Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, California 90027, USA.; Department of Pathology, Keck School of Medicine, University of Southern California, Los Angeles, California 90033, USA., Shen L; Center for Personalized Medicine, Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, California 90027, USA., Bootwalla M; Center for Personalized Medicine, Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, California 90027, USA., Quindipan C; Center for Personalized Medicine, Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, California 90027, USA., Tatarinova T; Department of Biology, University of La Verne, La Verne, California 91750, USA., Maglinte DT; Center for Personalized Medicine, Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, California 90027, USA., Buckley J; Center for Personalized Medicine, Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, California 90027, USA.; Department of Pathology, Keck School of Medicine, University of Southern California, Los Angeles, California 90033, USA., Raca G; Center for Personalized Medicine, Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, California 90027, USA.; Department of Pathology, Keck School of Medicine, University of Southern California, Los Angeles, California 90033, USA., Saitta SC; Center for Personalized Medicine, Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, California 90027, USA.; Department of Pathology, Keck School of Medicine, University of Southern California, Los Angeles, California 90033, USA., Biegel JA; Center for Personalized Medicine, Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, California 90027, USA.; Department of Pathology, Keck School of Medicine, University of Southern California, Los Angeles, California 90033, USA., Gai X; Center for Personalized Medicine, Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, California 90027, USA.; Department of Pathology, Keck School of Medicine, University of Southern California, Los Angeles, California 90033, USA.
Source: Cold Spring Harbor molecular case studies [Cold Spring Harb Mol Case Stud] 2019 Apr 01; Vol. 5 (2). Date of Electronic Publication: 2019 Apr 01 (Print Publication: 2019).
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Cold Spring Harbor Laboratory Press Country of Publication: United States NLM ID: 101660017 Publication Model: Electronic-Print Cited Medium: Internet ISSN: 2373-2873 (Electronic) Linking ISSN: 23732873 NLM ISO Abbreviation: Cold Spring Harb Mol Case Stud Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: A semiautomated whole-exome sequencing workflow leads to increased diagnostic yield and identification of novel candidate variants.
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  Data: <searchLink fieldCode="AU" term="%22Ji+J%22">Ji J</searchLink>; Center for Personalized Medicine, Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, California 90027, USA.; Department of Pathology, Keck School of Medicine, University of Southern California, Los Angeles, California 90033, USA.<br /><searchLink fieldCode="AU" term="%22Shen+L%22">Shen L</searchLink>; Center for Personalized Medicine, Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, California 90027, USA.<br /><searchLink fieldCode="AU" term="%22Bootwalla+M%22">Bootwalla M</searchLink>; Center for Personalized Medicine, Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, California 90027, USA.<br /><searchLink fieldCode="AU" term="%22Quindipan+C%22">Quindipan C</searchLink>; Center for Personalized Medicine, Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, California 90027, USA.<br /><searchLink fieldCode="AU" term="%22Tatarinova+T%22">Tatarinova T</searchLink>; Department of Biology, University of La Verne, La Verne, California 91750, USA.<br /><searchLink fieldCode="AU" term="%22Maglinte+DT%22">Maglinte DT</searchLink>; Center for Personalized Medicine, Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, California 90027, USA.<br /><searchLink fieldCode="AU" term="%22Buckley+J%22">Buckley J</searchLink>; Center for Personalized Medicine, Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, California 90027, USA.; Department of Pathology, Keck School of Medicine, University of Southern California, Los Angeles, California 90033, USA.<br /><searchLink fieldCode="AU" term="%22Raca+G%22">Raca G</searchLink>; Center for Personalized Medicine, Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, California 90027, USA.; Department of Pathology, Keck School of Medicine, University of Southern California, Los Angeles, California 90033, USA.<br /><searchLink fieldCode="AU" term="%22Saitta+SC%22">Saitta SC</searchLink>; Center for Personalized Medicine, Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, California 90027, USA.; Department of Pathology, Keck School of Medicine, University of Southern California, Los Angeles, California 90033, USA.<br /><searchLink fieldCode="AU" term="%22Biegel+JA%22">Biegel JA</searchLink>; Center for Personalized Medicine, Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, California 90027, USA.; Department of Pathology, Keck School of Medicine, University of Southern California, Los Angeles, California 90033, USA.<br /><searchLink fieldCode="AU" term="%22Gai+X%22">Gai X</searchLink>; Center for Personalized Medicine, Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, California 90027, USA.; Department of Pathology, Keck School of Medicine, University of Southern California, Los Angeles, California 90033, USA.
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  Data: <searchLink fieldCode="JN" term="%22101660017%22">Cold Spring Harbor molecular case studies</searchLink> [Cold Spring Harb Mol Case Stud] 2019 Apr 01; Vol. 5 (2). <i>Date of Electronic Publication: </i>2019 Apr 01 (<i>Print Publication: </i>2019).
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        Value: 10.1101/mcs.a003756
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              Text: 2019 Apr 01
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