Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls

Roddy Walsh*, Najim Lahrouchi, Rafik Tadros, Florence Kyndt, Charlotte Glinge, Pieter G. Postema, Ahmad S. Amin, Eline A. Nannenberg, James S. Ware, Nicola Whiffin, Francesco Mazzarotto, Doris Skoric-Milosavljevic, Christian Krijger, Elena Arbelo, Dominique Babuty, Hector Barajas-Martinez, Britt M. Beckmann, Stephane Bezieau, J. Martijn Bos, Jeroen BreckpotOscar Campuzano, Silvia Castelletti, Candan Celen, Sebastian Clauss, Anniek Corveleyn, Lia Crotti, Federica Dagradi, Carlo de Asmundis, Isabelle Denjoy, Sven Dittmann, Patrick T. Ellinor, Cristina Gil Ortuno, Carla Giustetto, Jean-Baptiste Gourraud, Daisuke Hazeki, Minoru Horie, Taisuke Ishikawa, Hideki Itoh, Yoshiaki Kaneko, Jorgen K. Kanters, Hiroki Kimoto, Maria-Christina Kotta, Ingrid P. C. Krapels, Masahiko Kurabayashi, Julieta Lazarte, Antoine Leenhardt, Bart L. Loeys, Catarina Lundin, Takeru Makiyama, Paul G. A. Volders, Nantes Referral Center for inherited cardiac arrhythmia

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)47-58
Number of pages12
JournalGenetics in Medicine
Volume23
Issue number1
Early online date7 Sep 2020
DOIs
Publication statusPublished - Jan 2021

Keywords

  • variant interpretation
  • LQTS
  • Brugada
  • ACMG/AMP guidelines
  • MUTATIONS

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