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

Ji, Jianling; Shen, Lishuang; Bootwalla, Moiz; Quindipan, Catherine; Tatarinova, Tatiana; Maglinte, Dennis T; Buckley, Jonathan; Raca, Gordana; Saitta, Sulagna C; Biegel, Jaclyn A; Gai, Xiaowu

Ji, Jianling; Shen, Lishuang; Bootwalla, Moiz; Quindipan, Catherine; Tatarinova, Tatiana; Maglinte, Dennis T; Buckley, Jonathan; Raca, Gordana; Saitta, Sulagna C; Biegel, Jaclyn A; Gai, Xiaowu.

Afiliación

Ji J; Center for Personalized Medicine, Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, California 90027, USA.
Shen L; Department of Pathology, Keck School of Medicine, University of Southern California, Los Angeles, California 90033, 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; Center for Personalized Medicine, Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, California 90027, USA.
Maglinte DT; Department of Biology, University of La Verne, La Verne, California 91750, USA.
Buckley J; Center for Personalized Medicine, Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, California 90027, USA.
Raca G; Center for Personalized Medicine, Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, California 90027, USA.
Saitta SC; 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.
Gai X; Department of Pathology, Keck School of Medicine, University of Southern California, Los Angeles, California 90033, USA.

Cold Spring Harb Mol Case Stud ; 5(2)2019 04.

Article en En | MEDLINE | ID: mdl-30755392

Asunto(s)

Trastorno del Espectro Autista/diagnóstico; Secuenciación del Exoma/métodos; Enfermedades del Sistema Inmune/diagnóstico; Neoplasias/diagnóstico; Adolescente; Trastorno del Espectro Autista/genética; Niño; Preescolar; Diagnóstico Precoz; Femenino; Predisposición Genética a la Enfermedad; Humanos; Enfermedades del Sistema Inmune/genética; Lactante; Recién Nacido; Masculino; Neoplasias/genética; Sensibilidad y Especificidad; Factores de Tiempo; Flujo de Trabajo; Adulto Joven

Palabras clave

abnormality of the cerebral vasculature; acute myeloid leukemia; aggressive behavior; ambiguous genitalia, male; aplasia of the thymus; astrocytoma; ataxia; autism; bilateral cryptorchidism; cleft palate; delayed social development; generalized hypotonia due to defect at the neuromuscular junction; generalized tonic seizures; microcephaly; osteosarcoma; retinoblastoma; severe T-cell immunodeficiency; severe global developmental delay; short stature; webbed neck

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Trastorno del Espectro Autista / Secuenciación del Exoma / Enfermedades del Sistema Inmune / Neoplasias Tipo de estudio: Diagnostic_studies / Prognostic_studies / Screening_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Cold Spring Harb Mol Case Stud Año: 2019 Tipo del documento: Article País de afiliación: Estados Unidos

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