The impact of inversions across 33,924 families with rare disease from a national genome sequencing project

Pagnamenta, A.T. orcid.org/0000-0001-7334-0602, Yu, J., Walker, S. et al. (65 more authors) (2024) The impact of inversions across 33,924 families with rare disease from a national genome sequencing project. The American Journal of Human Genetics, 111 (6). pp. 1140-1164. ISSN 0002-9297

Abstract

Metadata

Item Type: Article
Authors/Creators:
  • Pagnamenta, A.T. ORCID logo https://orcid.org/0000-0001-7334-0602
  • Yu, J.
  • Walker, S.
  • Noble, A.J.
  • Lord, J. ORCID logo https://orcid.org/0000-0002-0539-9343
  • Dutta, P.
  • Hashim, M.
  • Camps, C.
  • Green, H.
  • Devaiah, S.
  • Nashef, L.
  • Parr, J.
  • Fratter, C.
  • Ibnouf Hussein, R.
  • Lindsay, S.J.
  • Lalloo, F.
  • Banos-Pinero, B.
  • Evans, D.
  • Mallin, L.
  • Waite, A.
  • Evans, J.
  • Newman, A.
  • Allen, Z.
  • Perez-Becerril, C.
  • Ryan, G.
  • Hart, R.
  • Taylor, J.
  • Bedenham, T.
  • Clement, E.
  • Blair, E.
  • Hay, E.
  • Forzano, F.
  • Higgs, J.
  • Canham, N.
  • Majumdar, A.
  • McEntagart, M.
  • Lahiri, N.
  • Stewart, H.
  • Smithson, S.
  • Calpena, E.
  • Jackson, A.
  • Banka, S.
  • Titheradge, H.
  • McGowan, R.
  • Rankin, J.
  • Shaw-Smith, C.
  • Evans, D.G.
  • Burghel, G.J.
  • Smith, M.J.
  • Anderson, E.
  • Madhu, R.
  • Firth, H.
  • Ellard, S.
  • Brennan, P.
  • Anderson, C.
  • Taupin, D.
  • Rogers, M.T.
  • Cook, J.A.
  • Durkie, M.
  • East, J.E.
  • Fowler, D.
  • Wilson, L.
  • Igbokwe, R.
  • Gardham, A.
  • Tomlinson, I.
  • Baralle, D.
  • Uhlig, H.H.
  • Taylor, J.C.
Copyright, Publisher and Additional Information:

© 2024 The Author(s). This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).

Keywords: APC; HOXD cluster; MECP2; MSH2; PacBio; RNA-seq; complex rearrangement; founder mutation; genome sequencing; inversion; Humans; Rare Diseases; Male; Female; Chromosome Inversion; Pedigree; Genome, Human; Whole Genome Sequencing; Methyl-CpG-Binding Protein 2; Mutation; Homeodomain Proteins; Middle Aged
Dates:
  • Published: 6 June 2024
  • Published (online): 21 May 2024
  • Accepted: 25 April 2024
  • Submitted: 21 November 2023
Institution: The University of Sheffield
Academic Units: The University of Sheffield > Faculty of Medicine, Dentistry and Health (Sheffield) > School of Medicine and Population Health
Funding Information:
Funder
Grant number
MEDICAL RESEARCH COUNCIL
MR/W01761X/1
Depositing User: Symplectic Sheffield
Date Deposited: 28 Jun 2024 13:59
Last Modified: 28 Jun 2024 13:59
Status: Published
Publisher: Elsevier BV
Refereed: Yes
Identification Number: 10.1016/j.ajhg.2024.04.018
Related URLs:
Open Archives Initiative ID (OAI ID):

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