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A combined RNA-seq and whole genome sequencing approach for identification of non-coding pathogenic variants in single families.
Bronstein, Revital; Capowski, Elizabeth E; Mehrotra, Sudeep; Jansen, Alex D; Navarro-Gomez, Daniel; Maher, Mathew; Place, Emily; Sangermano, Riccardo; Bujakowska, Kinga M; Gamm, David M; Pierce, Eric A.
Afiliação
  • Bronstein R; Massachusetts Eye and Ear Infirmary, Harvard Medical School, Ocular Genomics Institute, Boston, MA 02114, USA.
  • Capowski EE; Waisman Center Stem Cell Research Program, University of Wisconsin-Madison, Madison, WI 53705, USA.
  • Mehrotra S; Massachusetts Eye and Ear Infirmary, Harvard Medical School, Ocular Genomics Institute, Boston, MA 02114, USA.
  • Jansen AD; Waisman Center Stem Cell Research Program, University of Wisconsin-Madison, Madison, WI 53705, USA.
  • Navarro-Gomez D; Massachusetts Eye and Ear Infirmary, Harvard Medical School, Ocular Genomics Institute, Boston, MA 02114, USA.
  • Maher M; Massachusetts Eye and Ear Infirmary, Harvard Medical School, Ocular Genomics Institute, Boston, MA 02114, USA.
  • Place E; Massachusetts Eye and Ear Infirmary, Harvard Medical School, Ocular Genomics Institute, Boston, MA 02114, USA.
  • Sangermano R; Massachusetts Eye and Ear Infirmary, Harvard Medical School, Ocular Genomics Institute, Boston, MA 02114, USA.
  • Bujakowska KM; Massachusetts Eye and Ear Infirmary, Harvard Medical School, Ocular Genomics Institute, Boston, MA 02114, USA.
  • Gamm DM; Department of Ophthalmology and Visual Sciences, Waisman Center Stem Cell Research Program, McPherson Eye Research Institute, University of Wisconsin-Madison, Madison, WI 53705, USA.
  • Pierce EA; Massachusetts Eye and Ear Infirmary, Harvard Medical School, Ocular Genomics Institute, Boston, MA 02114, USA.
Hum Mol Genet ; 29(6): 967-979, 2020 04 15.
Article em En | MEDLINE | ID: mdl-32011687
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Degeneração Retiniana / Variação Genética / Marcadores Genéticos / Genoma Humano / Sequenciamento Completo do Genoma / RNA-Seq Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Child / Female / Humans / Male Idioma: En Revista: Hum Mol Genet Assunto da revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Degeneração Retiniana / Variação Genética / Marcadores Genéticos / Genoma Humano / Sequenciamento Completo do Genoma / RNA-Seq Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Child / Female / Humans / Male Idioma: En Revista: Hum Mol Genet Assunto da revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Estados Unidos