Rapid Detection of Rare Deleterious Variants by Next Generation Sequencing with Optional Microarray SNP Genotype Data.

Watson, CM, Crinnion, LA, Gurgel-Gianetti, J et al. (8 more authors) (2015) Rapid Detection of Rare Deleterious Variants by Next Generation Sequencing with Optional Microarray SNP Genotype Data. Human Mutation, 36 (9). pp. 823-830. ISSN 1059-7794

Abstract

Metadata

Authors/Creators:
  • Watson, CM
  • Crinnion, LA
  • Gurgel-Gianetti, J
  • Harrison, SM
  • Daly, C
  • Antanavicuite, A
  • Lascelles, C
  • Markham, AF
  • Pena, SD
  • Bonthron, DT
  • Carr, IM
Copyright, Publisher and Additional Information: © 2015 The Authors. Human Mutation published by Wiley Periodicals, Inc. This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
Keywords: Autozygosity Mapping; Exome; Next Generation Sequencing; Software
Dates:
  • Published: September 2015
  • Accepted: 27 May 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)
The University of Leeds > Faculty of Medicine and Health (Leeds) > Institute of Molecular Medicine (LIMM) (Leeds) > Section of Translational Medicine (Leeds)
Depositing User: Symplectic Publications
Date Deposited: 30 Jul 2015 09:53
Last Modified: 25 Feb 2016 12:19
Published Version: http://dx.doi.org/10.1002/humu.22818
Status: Published
Publisher: Wiley
Identification Number: https://doi.org/10.1002/humu.22818
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