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  • Exome sequencing as a first-tier test for copy number variant detection: retrospective evaluation and prospective screening in 2418 cases

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Copy-number variation
Original research
Exome sequencing as a first-tier test for copy number variant detection: retrospective evaluation and prospective screening in 2418 cases

Authors

  1. Correspondence to Dr Jean-François Taly, Eurofins Biomnis Lyon, Lyon 69007, France; JeanFrancoisTaly{at}eurofins-biomnis.com; Dr Julien Thevenon; jthevenon{at}chu-grenoble.fr
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Citation

Testard Q, Vanhoye X, Yauy K, et al
Exome sequencing as a first-tier test for copy number variant detection: retrospective evaluation and prospective screening in 2418 cases
Journal of Medical Genetics 2022;59:1234-1240.

Publication history

  • Received January 10, 2022
  • Accepted August 10, 2022
  • First published September 22, 2022.
Online issue publication 
November 22, 2022

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© Author(s) (or their employer(s)) 2022. No commercial re-use. See rights and permissions. Published by BMJ.