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Mobile element insertion detection in 89,874 clinical exomes.
Torene, Rebecca I; Galens, Kevin; Liu, Shuxi; Arvai, Kevin; Borroto, Carlos; Scuffins, Julie; Zhang, Zhancheng; Friedman, Bethany; Sroka, Hana; Heeley, Jennifer; Beaver, Erin; Clarke, Lorne; Neil, Sarah; Walia, Jagdeep; Hull, Danna; Juusola, Jane; Retterer, Kyle.
Affiliation
  • Torene RI; GeneDx, Gaithersburg, MD, USA. rtorene@genedx.com.
  • Galens K; GeneDx, Gaithersburg, MD, USA.
  • Liu S; GeneDx, Gaithersburg, MD, USA.
  • Arvai K; GeneDx, Gaithersburg, MD, USA.
  • Borroto C; GeneDx, Gaithersburg, MD, USA.
  • Scuffins J; GeneDx, Gaithersburg, MD, USA.
  • Zhang Z; GeneDx, Gaithersburg, MD, USA.
  • Friedman B; GeneDx, Gaithersburg, MD, USA.
  • Sroka H; GeneDx, Gaithersburg, MD, USA.
  • Heeley J; Mercy Kids Genetics, St. Louis, MO, USA.
  • Beaver E; Mercy Kids Genetics, St. Louis, MO, USA.
  • Clarke L; Provincial Medical Genetics Program, BC Women's Hospital + Health Centre, Vancouver, BC, Canada.
  • Neil S; Provincial Medical Genetics Program, BC Women's Hospital + Health Centre, Vancouver, BC, Canada.
  • Walia J; Divison of Medical Genetics, Kingston Health Sciences Centre, Kingston, ON, Canada.
  • Hull D; Divison of Medical Genetics, Kingston Health Sciences Centre, Kingston, ON, Canada.
  • Juusola J; GeneDx, Gaithersburg, MD, USA.
  • Retterer K; GeneDx, Gaithersburg, MD, USA.
Genet Med ; 22(5): 974-978, 2020 05.
Article in En | MEDLINE | ID: mdl-31965078
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Genetic Testing / Exome Type of study: Diagnostic_studies / Prognostic_studies Limits: Humans Language: En Journal: Genet Med Journal subject: GENETICA MEDICA Year: 2020 Document type: Article Affiliation country: United States Country of publication: United States
Fulltext
Add to My VHL
Print
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Genetic Testing / Exome Type of study: Diagnostic_studies / Prognostic_studies Limits: Humans Language: En Journal: Genet Med Journal subject: GENETICA MEDICA Year: 2020 Document type: Article Affiliation country: United States Country of publication: United States