Enhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mapping

Watson, CM, Crinnion, LA, Berry, IR et al. (7 more authors) (2016) Enhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mapping. BMC Medical Genetics, 17. 1. ISSN 1471-2350

Abstract

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Authors/Creators:
  • Watson, CM
  • Crinnion, LA
  • Berry, IR
  • Harrison, SM
  • Lascelles, C
  • Antanaviciute, A
  • Charlton, RS
  • Dobbie, A
  • Carr, IM
  • Bonthron, DT
Copyright, Publisher and Additional Information: © 2015, Watson et al. This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://​creativecommons.​org/​licenses/​by/​4.​0/​), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://​creativecommons.​org/​publicdomain/​zero/​1.​0/​) applies to the data made available in this article, unless otherwise stated.
Keywords: CNV; Exome; Joubert; Meckel-Gruber; Split-read mapping; Whole genome sequencing
Dates:
  • Published: 4 January 2016
  • Accepted: 16 December 2015
Institution: The University of Leeds
Academic Units: The University of Leeds > Faculty of Medicine and Health (Leeds) > School of Medicine (Leeds) > Inst of Biomed & Clin Sciences (LIBACS) (Leeds) > Genetics (LIBACS) (Leeds)
Depositing User: Symplectic Publications
Date Deposited: 28 Jan 2016 10:52
Last Modified: 12 May 2016 13:15
Published Version: http://dx.doi.org/10.1186/s12881-015-0265-z
Status: Published
Publisher: BioMed Central
Identification Number: https://doi.org/10.1186/s12881-015-0265-z
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