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Diagnostics
Original research
Targeted long-read sequencing identifies missing pathogenic variants in unsolved Werner syndrome cases

Authors

  1. Correspondence to Dr Danny E. Miller, Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA 98195, USA; dm1{at}uw.edu; Dr Junko Oshima, Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA, USA; picard{at}uw.edu
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Citation

Miller DE, Lee L, Galey M, et al
Targeted long-read sequencing identifies missing pathogenic variants in unsolved Werner syndrome cases
Journal of Medical Genetics 2022;59:1087-1094.

Publication history

  • Received February 5, 2022
  • Accepted April 14, 2022
  • First published May 9, 2022.
Online issue publication 
May 11, 2023

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© Author(s) (or their employer(s)) 2022. Re-use permitted under CC BY. Published by BMJ. https://creativecommons.org/licenses/by/4.0/This is an open access article distributed in accordance with the Creative Commons Attribution 4.0 Unported (CC BY 4.0) license, which permits others to copy, redistribute, remix, transform and build upon this work for any purpose, provided the original work is properly cited, a link to the licence is given, and indication of whether changes were made. See: https://creativecommons.org/licenses/by/4.0/.