Evaluation of missense and splicing in silico predictions tools and implementation of an efficient SNV prioritization NGS pipeline for molecular diagnosis of Myopathies and Muscular Dystrophies

  K. Yauy AuthorId : 11742327
Author

  David Baux ^{1, 2} AuthorId : 562228
Author IdHAL : david-baux ORCID : https://orcid.org/0000-0003-3423-1221

  H. Pegeot AuthorId : 11742328
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  C. van Goethem AuthorId : 11742329
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  C. Mathieu ³ AuthorId : 11317578
Author Employer institution : Institut Pluridisciplinaire Hubert Curien

  T. Guignard AuthorId : 135363
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  R. Juntas Morales AuthorId : 11742330
Author

  D. Lacourt AuthorId : 11742331
Author

  Martin Krahn ⁴ AuthorId : 1490676
Author IdHAL : martin-krahn ORCID : https://orcid.org/0000-0002-1020-802X

  V. Lektokari AuthorId : 11742332
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  G. Bonne AuthorId : 11156700
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  Sylvie Tuffery-Giraud ² AuthorId : 153850
Author IdHAL : sylvie-tuffery-giraud ORCID : https://orcid.org/0000-0001-9369-7780

  M. Koenig ⁵ AuthorId : 36993
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  M. Cossee ^{2, 1} AuthorId : 154387
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