Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease

Carss, KJ, Arno, G, Erwood, M et al. (35 more authors) (2017) Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease. American Journal of Human Genetics, 100 (1). pp. 75-90. ISSN 0002-9297

Abstract

Metadata

Authors/Creators:
  • Carss, KJ
  • Arno, G
  • Erwood, M
  • Stephens, J
  • Sanchis-Juan, A
  • Hull, S
  • Megy, K
  • Grozeva, D
  • Dewhurst, E
  • Malka, S
  • Plagnol, V
  • Penkett, C
  • Stirrups, K
  • Rizzo, R
  • Wright, G
  • Josifova, D
  • Bitner-Glindzicz, M
  • Scott, RH
  • Clement, E
  • Allen, L
  • Armstrong, R
  • Brady, AF
  • Carmichael, J
  • Chitre, M
  • Henderson, RHH
  • Hurst, J
  • MacLaren, RE
  • Murphy, E
  • Paterson, J
  • Rosser, E
  • Thompson, DA
  • Wakeling, E
  • Ouwehand, WH
  • Michaelides, M
  • Moore, AT
  • NIHR-BioResource Rare Diseases Consortium,
  • Webster, AR
  • Raymond, FL
Copyright, Publisher and Additional Information: © 2016. This is an author produced version of a paper published in The American Journal of Human Genetics. Uploaded in accordance with the publisher's self-archiving policy.
Keywords: retinal dystrophy; whole-genome sequence; copy-number variants; rare sequence variant
Dates:
  • Published: 5 January 2017
  • Accepted: 29 November 2016
  • Published (online): 29 December 2016
Institution: The University of Leeds
Academic Units: The University of Leeds > Faculty of Medicine and Health (Leeds) > School of Medicine (Leeds) > Institute of Rheumatology & Musculoskeletal Medicine (LIRMM) (Leeds)
Depositing User: Symplectic Publications
Date Deposited: 25 Sep 2018 12:56
Last Modified: 02 Apr 2019 15:28
Status: Published
Publisher: Elsevier
Identification Number: https://doi.org/10.1016/j.ajhg.2016.12.003

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