Changes in clinical practice related to the arrival of next-generation sequencing in the genetic diagnosis of developmental diseases

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Last Posted: Feb 12, 2018

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• Developing a 2020 vision for genomics: NHGRI launches new round of strategic planning  
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• [Changes in clinical practice related to the arrival of next-generation sequencing in the genetic diagnosis of developmental diseases].  
  Demougeot L et al. Archives de pediatrie : organe officiel de la Societe francaise de pediatrie 2018 Jan
• Experience with genomic sequencing in pediatric patients with congenital cardiac defects in a large community hospital.  
  Hauser Natalie S et al. Molecular genetics & genomic medicine 2018 Jan
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  Singh Mahavir et al. International journal of ophthalmology 2018 11(1) 117-134
• Genetic assessment wait time indicators in the High Risk Ontario Breast Screening Program.  
  Eisen Andrea et al. Molecular genetics & genomic medicine 2018 Jan
• gnomAD browser beta | genome Aggregation Database  
  Jan 25, 2018

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