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A comparative medical genomics approach may facilitate the interpretation of rare missense variation

Authors

  • Bushra Haque Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, Ontario, Canada Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada PubMed articlesGoogle scholar articles
  • George Guirguis Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, Ontario, Canada Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada PubMed articlesGoogle scholar articles
  • Meredith Curtis Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, Ontario, Canada Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada PubMed articlesGoogle scholar articles
  • Hera Mohsin Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada PubMed articlesGoogle scholar articles
  • Susan Walker The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada PubMed articlesGoogle scholar articles
  • Michelle M Morrow GeneDx, Gaithersburg, Maryland, USA PubMed articlesGoogle scholar articles
  • Gregory Costain Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, Ontario, Canada Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada Department of Paediatrics, University of Toronto, Toronto, Ontario, Canada PubMed articlesGoogle scholar articles
  1. Correspondence to Dr Gregory Costain, Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, Canada; gregory.costain{at}sickkids.ca
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Citation

Haque B, Guirguis G, Curtis M, et al
A comparative medical genomics approach may facilitate the interpretation of rare missense variation
Journal of Medical Genetics 2024;61:817-821.

Publication history

  • Received November 13, 2023
  • Accepted March 12, 2024
  • First published March 20, 2024.
Online issue publication 
July 19, 2024

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© Author(s) (or their employer(s)) 2024. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. http://creativecommons.org/licenses/by-nc/4.0/This is an open access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited, appropriate credit is given, any changes made indicated, and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/.