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Targeted long-read sequencing identifies missing disease-causing variation.
Miller, Danny E; Sulovari, Arvis; Wang, Tianyun; Loucks, Hailey; Hoekzema, Kendra; Munson, Katherine M; Lewis, Alexandra P; Fuerte, Edith P Almanza; Paschal, Catherine R; Walsh, Tom; Thies, Jenny; Bennett, James T; Glass, Ian; Dipple, Katrina M; Patterson, Karynne; Bonkowski, Emily S; Nelson, Zoe; Squire, Audrey; Sikes, Megan; Beckman, Erika; Bennett, Robin L; Earl, Dawn; Lee, Winston; Allikmets, Rando; Perlman, Seth J; Chow, Penny; Hing, Anne V; Wenger, Tara L; Adam, Margaret P; Sun, Angela; Lam, Christina; Chang, Irene; Zou, Xue; Austin, Stephanie L; Huggins, Erin; Safi, Alexias; Iyengar, Apoorva K; Reddy, Timothy E; Majoros, William H; Allen, Andrew S; Crawford, Gregory E; Kishnani, Priya S; King, Mary-Claire; Cherry, Tim; Chong, Jessica X; Bamshad, Michael J; Nickerson, Deborah A; Mefford, Heather C; Doherty, Dan; Eichler, Evan E.
Afiliación
  • Miller DE; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA; Department of Pediatrics, Division of Genetic Medicine, University of Washington and Seattle Children's Hospital, Seattle, WA 98105, USA. Electronic address: danny.miller@seattlechildrens.org.
  • Sulovari A; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.
  • Wang T; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.
  • Loucks H; Department of Pediatrics, Division of Genetic Medicine, University of Washington and Seattle Children's Hospital, Seattle, WA 98105, USA.
  • Hoekzema K; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.
  • Munson KM; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.
  • Lewis AP; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.
  • Fuerte EPA; Department of Pediatrics, Division of Genetic Medicine, University of Washington and Seattle Children's Hospital, Seattle, WA 98105, USA.
  • Paschal CR; Department of Laboratories, Seattle Children's Hospital, Seattle, WA 98105, USA; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA 98195, USA.
  • Walsh T; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA.
  • Thies J; Department of Pediatrics, Division of Genetic Medicine, University of Washington and Seattle Children's Hospital, Seattle, WA 98105, USA.
  • Bennett JT; Department of Pediatrics, Division of Genetic Medicine, University of Washington and Seattle Children's Hospital, Seattle, WA 98105, USA; Department of Laboratories, Seattle Children's Hospital, Seattle, WA 98105, USA; Center for Developmental Biology and Regenerative Medicine, Seattle Children's Re
  • Glass I; Department of Pediatrics, Division of Genetic Medicine, University of Washington and Seattle Children's Hospital, Seattle, WA 98105, USA.
  • Dipple KM; Department of Pediatrics, Division of Genetic Medicine, University of Washington and Seattle Children's Hospital, Seattle, WA 98105, USA; Brotman Baty Institute for Precision Medicine, Seattle, WA 98195, USA; Center for Clinical and Translational Research, Seattle Children's Research Institute, Seat
  • Patterson K; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.
  • Bonkowski ES; Department of Pediatrics, Division of Genetic Medicine, University of Washington and Seattle Children's Hospital, Seattle, WA 98105, USA.
  • Nelson Z; Department of Pediatrics, Division of Genetic Medicine, University of Washington and Seattle Children's Hospital, Seattle, WA 98105, USA.
  • Squire A; Department of Pediatrics, Division of Genetic Medicine, University of Washington and Seattle Children's Hospital, Seattle, WA 98105, USA.
  • Sikes M; Department of Pediatrics, Division of Genetic Medicine, University of Washington and Seattle Children's Hospital, Seattle, WA 98105, USA.
  • Beckman E; Department of Pediatrics, Division of Genetic Medicine, University of Washington and Seattle Children's Hospital, Seattle, WA 98105, USA.
  • Bennett RL; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA.
  • Earl D; Department of Pediatrics, Division of Genetic Medicine, University of Washington and Seattle Children's Hospital, Seattle, WA 98105, USA.
  • Lee W; Department of Genetics and Development, Columbia University, New York, NY 10032, USA; Department of Ophthalmology, Columbia University, New York, NY 10032, USA.
  • Allikmets R; Department of Ophthalmology, Columbia University, New York, NY 10032, USA; Department of Pathology and Cell Biology, Columbia University, New York, NY 10032, USA.
  • Perlman SJ; Department of Neurology, Seattle Children's Hospital, University of Washington, Seattle, WA 98105, USA.
  • Chow P; Department of Pediatrics, Division of Craniofacial Medicine, University of Washington, Seattle, WA 98195, USA.
  • Hing AV; Department of Pediatrics, Division of Craniofacial Medicine, University of Washington, Seattle, WA 98195, USA.
  • Wenger TL; Department of Pediatrics, Division of Genetic Medicine, University of Washington and Seattle Children's Hospital, Seattle, WA 98105, USA.
  • Adam MP; Department of Pediatrics, Division of Genetic Medicine, University of Washington and Seattle Children's Hospital, Seattle, WA 98105, USA.
  • Sun A; Department of Pediatrics, Division of Genetic Medicine, University of Washington and Seattle Children's Hospital, Seattle, WA 98105, USA; Center for Clinical and Translational Research, Seattle Children's Research Institute, Seattle, WA 98101, USA.
  • Lam C; Department of Pediatrics, Division of Genetic Medicine, University of Washington and Seattle Children's Hospital, Seattle, WA 98105, USA; Brotman Baty Institute for Precision Medicine, Seattle, WA 98195, USA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 9
  • Chang I; Department of Pediatrics, Division of Genetic Medicine, University of Washington and Seattle Children's Hospital, Seattle, WA 98105, USA.
  • Zou X; Program in Computational Biology & Bioinformatics, Duke University, Durham, NC 27710, USA.
  • Austin SL; Department of Pediatrics, Division of Medical Genetics, Duke University, Durham, NC 27708, USA.
  • Huggins E; Department of Pediatrics, Division of Medical Genetics, Duke University, Durham, NC 27708, USA.
  • Safi A; Department of Pediatrics, Division of Medical Genetics, Duke University, Durham, NC 27708, USA.
  • Iyengar AK; Department of Biostatistics and Bioinformatics, Duke University; Durham, NC 27708, USA; University Program in Genetics and Genomics, Duke University; Durham, NC 27708, USA.
  • Reddy TE; Department of Biostatistics and Bioinformatics, Duke University; Durham, NC 27708, USA.
  • Majoros WH; Department of Biostatistics and Bioinformatics, Duke University; Durham, NC 27708, USA.
  • Allen AS; Department of Biostatistics and Bioinformatics, Duke University; Durham, NC 27708, USA.
  • Crawford GE; Department of Pediatrics, Division of Medical Genetics, Duke University, Durham, NC 27708, USA.
  • Kishnani PS; Department of Pediatrics, Division of Medical Genetics, Duke University, Durham, NC 27708, USA.
  • King MC; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA.
  • Cherry T; Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, WA 98101, USA.
  • Chong JX; Department of Pediatrics, Division of Genetic Medicine, University of Washington and Seattle Children's Hospital, Seattle, WA 98105, USA; Brotman Baty Institute for Precision Medicine, Seattle, WA 98195, USA.
  • Bamshad MJ; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA; Department of Pediatrics, Division of Genetic Medicine, University of Washington and Seattle Children's Hospital, Seattle, WA 98105, USA; Brotman Baty Institute for Precision Medicine, Seattle, WA 981
  • Nickerson DA; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA; Brotman Baty Institute for Precision Medicine, Seattle, WA 98195, USA.
  • Mefford HC; Department of Pediatrics, Division of Genetic Medicine, University of Washington and Seattle Children's Hospital, Seattle, WA 98105, USA; Brotman Baty Institute for Precision Medicine, Seattle, WA 98195, USA.
  • Doherty D; Department of Pediatrics, Division of Genetic Medicine, University of Washington and Seattle Children's Hospital, Seattle, WA 98105, USA; Brotman Baty Institute for Precision Medicine, Seattle, WA 98195, USA; Department of Pediatrics, Division of Developmental Medicine, University of Washington and
  • Eichler EE; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA; Brotman Baty Institute for Precision Medicine, Seattle, WA 98195, USA; Howard Hughes Medical Institute, University of Washington, Seattle, WA 98195, USA. Electronic address: eee@gs.washington.edu.
Am J Hum Genet ; 108(8): 1436-1449, 2021 08 05.
Article en En | MEDLINE | ID: mdl-34216551
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Genoma Humano / Aberraciones Cromosómicas / Predisposición Genética a la Enfermedad / Análisis Citogenético / Enfermedades Genéticas Congénitas / Mutación Tipo de estudio: Prognostic_studies Límite: Female / Humans / Male Idioma: En Revista: Am J Hum Genet Año: 2021 Tipo del documento: Article
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Genoma Humano / Aberraciones Cromosómicas / Predisposición Genética a la Enfermedad / Análisis Citogenético / Enfermedades Genéticas Congénitas / Mutación Tipo de estudio: Prognostic_studies Límite: Female / Humans / Male Idioma: En Revista: Am J Hum Genet Año: 2021 Tipo del documento: Article