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MIPP-Seq: ultra-sensitive rapid detection and validation of low-frequency mosaic mutations.
Doan, Ryan N; Miller, Michael B; Kim, Sonia N; Rodin, Rachel E; Ganz, Javier; Bizzotto, Sara; Morillo, Katherine S; Huang, August Yue; Digumarthy, Reethika; Zemmel, Zachary; Walsh, Christopher A.
  • Doan RN; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Center for Life Sciences 15062, 300 Longwood Avenue, BCH3150, Boston, MA, 02115, USA. Ryan.Doan@childrens.harvard.edu.
  • Miller MB; Allen Discovery Center for Human Brain Evolution, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA. Ryan.Doan@childrens.harvard.edu.
  • Kim SN; Departments of Pediatrics and Neurology, Harvard Medical School, Boston, MA, USA. Ryan.Doan@childrens.harvard.edu.
  • Rodin RE; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Center for Life Sciences 15062, 300 Longwood Avenue, BCH3150, Boston, MA, 02115, USA.
  • Ganz J; Department of Pathology, Brigham and Women's Hospital, Boston, MA, USA.
  • Bizzotto S; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Center for Life Sciences 15062, 300 Longwood Avenue, BCH3150, Boston, MA, 02115, USA.
  • Morillo KS; Program in Biological and Biomedical Sciences, Harvard University, Boston, MA, USA.
  • Huang AY; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Center for Life Sciences 15062, 300 Longwood Avenue, BCH3150, Boston, MA, 02115, USA.
  • Digumarthy R; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Center for Life Sciences 15062, 300 Longwood Avenue, BCH3150, Boston, MA, 02115, USA.
  • Zemmel Z; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Center for Life Sciences 15062, 300 Longwood Avenue, BCH3150, Boston, MA, 02115, USA.
  • Walsh CA; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Center for Life Sciences 15062, 300 Longwood Avenue, BCH3150, Boston, MA, 02115, USA.
BMC Med Genomics ; 14(1): 47, 2021 02 12.
Article en En | MEDLINE | ID: mdl-33579278

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Mutación INDEL Tipo de estudio: Diagnostic_studies / Screening_studies Límite: Humans Idioma: En Año: 2021 Tipo del documento: Article

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Mutación INDEL Tipo de estudio: Diagnostic_studies / Screening_studies Límite: Humans Idioma: En Año: 2021 Tipo del documento: Article