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Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes.
Schmitz-Abe, Klaus; Li, Qifei; Rosen, Samantha M; Nori, Neeharika; Madden, Jill A; Genetti, Casie A; Wojcik, Monica H; Ponnaluri, Sadhana; Gubbels, Cynthia S; Picker, Jonathan D; O'Donnell-Luria, Anne H; Yu, Timothy W; Bodamer, Olaf; Brownstein, Catherine A; Beggs, Alan H; Agrawal, Pankaj B.
  • Schmitz-Abe K; Division of Newborn Medicine and Neonatal Genomics Program, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02115, USA.
  • Li Q; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02115, USA.
  • Rosen SM; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02115, USA.
  • Nori N; Division of Newborn Medicine and Neonatal Genomics Program, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02115, USA.
  • Madden JA; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02115, USA.
  • Genetti CA; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02115, USA.
  • Wojcik MH; Division of Newborn Medicine and Neonatal Genomics Program, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02115, USA.
  • Ponnaluri S; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02115, USA.
  • Gubbels CS; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02115, USA.
  • Picker JD; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02115, USA.
  • O'Donnell-Luria AH; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02115, USA.
  • Yu TW; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02115, USA.
  • Bodamer O; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02115, USA.
  • Brownstein CA; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02115, USA.
  • Beggs AH; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02115, USA.
  • Agrawal PB; Division of Newborn Medicine and Neonatal Genomics Program, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02115, USA.
Eur J Hum Genet ; 27(9): 1398-1405, 2019 09.
Article en En | MEDLINE | ID: mdl-30979967
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Pruebas Genéticas / Biología Computacional / Secuenciación del Exoma Tipo de estudio: Diagnostic_studies Límite: Humans / Male Idioma: En Año: 2019 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Pruebas Genéticas / Biología Computacional / Secuenciación del Exoma Tipo de estudio: Diagnostic_studies Límite: Humans / Male Idioma: En Año: 2019 Tipo del documento: Article