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. |
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| 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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