Your browser doesn't support javascript.
loading
Whole genome sequencing and variant discovery in the ASPIRE autism spectrum disorder cohort.
Callaghan, Daniel Benjamin; Rogic, Sanja; Tan, Powell Patrick Cheng; Calli, Kristina; Qiao, Ying; Baldwin, Robert; Jacobson, Matthew; Belmadani, Manuel; Holmes, Nathan; Yu, Chang; Li, Yanchen; Li, Yingrui; Kurtzke, Franz-Edward; Kuzeljevic, Boris; Yu, An Yi; Hudson, Melissa; Mcaughton, Amy J M; Xu, Yuchen; Dionne-Laporte, Alexandre; Girard, Simon; Liang, Ping; Separovic, Evica Rajcan; Liu, Xudong; Rouleau, Guy; Pavlidis, Paul; Lewis, M E Suzanne.
Afiliación
  • Callaghan DB; Michael Smith Laboratories, University of British Columbia, Vancouver, Canada.
  • Rogic S; Department of Psychiatry, University of British Columbia, Vancouver, Canada.
  • Tan PPC; Michael Smith Laboratories, University of British Columbia, Vancouver, Canada.
  • Calli K; Department of Psychiatry, University of British Columbia, Vancouver, Canada.
  • Qiao Y; Michael Smith Laboratories, University of British Columbia, Vancouver, Canada.
  • Baldwin R; Department of Psychiatry, University of British Columbia, Vancouver, Canada.
  • Jacobson M; Department of Medical Genetics, BC Children's Hospital Research Institute, University of British Columbia, Vancouver, Canada.
  • Belmadani M; Department of Medical Genetics, BC Children's Hospital Research Institute, University of British Columbia, Vancouver, Canada.
  • Holmes N; Department of Biological Sciences, Brock University, St. Catharines, Canada.
  • Yu C; Michael Smith Laboratories, University of British Columbia, Vancouver, Canada.
  • Li Y; Department of Psychiatry, University of British Columbia, Vancouver, Canada.
  • Li Y; Michael Smith Laboratories, University of British Columbia, Vancouver, Canada.
  • Kurtzke FE; Department of Psychiatry, University of British Columbia, Vancouver, Canada.
  • Kuzeljevic B; Michael Smith Laboratories, University of British Columbia, Vancouver, Canada.
  • Yu AY; Department of Psychiatry, University of British Columbia, Vancouver, Canada.
  • Hudson M; Medical Division, BGI-Shenzhen, Shenzhen, China.
  • Mcaughton AJM; Medical Division, BGI-Shenzhen, Shenzhen, China.
  • Xu Y; Medical Division, BGI-Shenzhen, Shenzhen, China.
  • Dionne-Laporte A; Department of Medical Genetics, BC Children's Hospital Research Institute, University of British Columbia, Vancouver, Canada.
  • Girard S; Clinical Research Support Unit, BC Children's Hospital Research Institute, University of British Columbia, Vancouver, Canada.
  • Liang P; Department of Medical Genetics, BC Children's Hospital Research Institute, University of British Columbia, Vancouver, Canada.
  • Separovic ER; Queen's Genomics Lab at Ongwanada, Ongwanada Resource Center, Kingston, Canada.
  • Liu X; Department of Psychiatry, Queen's University, Kingston, Canada.
  • Rouleau G; Queen's Genomics Lab at Ongwanada, Ongwanada Resource Center, Kingston, Canada.
  • Pavlidis P; Department of Psychiatry, Queen's University, Kingston, Canada.
  • Lewis MES; Department of Biological Sciences, Brock University, St. Catharines, Canada.
Clin Genet ; 96(3): 199-206, 2019 09.
Article en En | MEDLINE | ID: mdl-31038196
Autism spectrum disorder (ASD) is a highly heterogeneous genetic disorder with strong evidence of ASD-association currently available only for a small number of genes. This makes it challenging to identify the underlying genetic cause in many cases of ASD, and there is a continuing need for further discovery efforts. We sequenced whole genomes of 119 deeply phenotyped ASD probands in order to identify likely pathogenic variants. We prioritized variants found in each subject by predicted damage, population frequency, literature evidence, and phenotype concordance. We used Sanger sequencing to determine the inheritance status of high-priority variants where possible. We report five novel de novo damaging variants as well as several likely damaging variants of unknown inheritance; these include two novel de novo variants in the well-established ASD gene SCN2A. The availability of rich phenotypic information and its concordance with the literature allowed us to increase our confidence in pathogenicity of discovered variants, especially in probands without parental DNA. Our results contribute to the documentation of potential pathogenic variants and their associated phenotypes in individuals with ASD.
Asunto(s)
Palabras clave
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Variación Genética / Predisposición Genética a la Enfermedad / Trastorno del Espectro Autista / Secuenciación Completa del Genoma Tipo de estudio: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Female / Humans / Male País/Región como asunto: America do norte Idioma: En Revista: Clin Genet Año: 2019 Tipo del documento: Article País de afiliación: Canadá Pais de publicación: Dinamarca
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Variación Genética / Predisposición Genética a la Enfermedad / Trastorno del Espectro Autista / Secuenciación Completa del Genoma Tipo de estudio: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Female / Humans / Male País/Región como asunto: America do norte Idioma: En Revista: Clin Genet Año: 2019 Tipo del documento: Article País de afiliación: Canadá Pais de publicación: Dinamarca