Free Access
Issue
Med Sci (Paris)
Volume 34, Novembre 2018
Les Cahiers de Myologie
Page(s) 20 - 22
Section Prise en charge
DOI https://doi.org/10.1051/medsci/201834s206
Published online 12 November 2018
  1. Matthijs G Souche E Alders M et al. Guidelines for diagnostic next-generation sequencing. Eur J Hum Genet 2016 ; 24 : 2–5. [Google Scholar]
  2. Krahn M, Biancalana V, Cerino M, et al. A national French consensus on gene lists for the diagnosis of myopathies using next generation sequencing. Eur J Hum Genet 2018 (accepted for publication). [Google Scholar]
  3. Richards S Aziz N Bale S et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 2015 ; 17 : 405–424. [CrossRef] [PubMed] [Google Scholar]
  4. Amendola LM Jarvik GP Leo MC et al. Performance of ACMG-AMP variant-interpretation guidelines among nine laboratories in the clinical sequencing exploratory research consortium. Am J Hum Genet 2016 ; 98 : 1067–1076. [Google Scholar]

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