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

• Verfasst von: Walsh, Roddy [VerfasserIn]
• Verfasst von: Rudic, Boris [VerfasserIn]
• Verfasst von: Borggrefe, Martin [VerfasserIn]
• Titel: Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls
• Verf.angabe: 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 Škorić-Milosavljević, Christian Krijger, Elena Arbelo, Dominique Babuty, Hector Barajas-Martinez, Britt M. Beckmann, Stéphane Bézieau, J. Martijn Bos, Jeroen Breckpot, Oscar 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 Ortuño, Carla Giustetto, Jean-Baptiste Gourraud, Daisuke Hazeki, Minoru Horie, Taisuke Ishikawa, Hideki Itoh, Yoshiaki Kaneko, Jørgen K. Kanters, Hiroki Kimoto, Maria-Christina Kotta, Ingrid P. C. Krapels, Masahiko Kurabayashi, Julieta Lazarte, Antoine Leenhardt, Bart L. Loeys, Catarina Lundin, Takeru Makiyama, Jacques Mansourati, Raphaël P. Martins, Andrea Mazzanti, Stellan Mörner, Carlo Napolitano, Kimie Ohkubo, Michael Papadakis, Boris Rudic, Maria Sabater Molina, Frédéric Sacher, Hatice Sahin, Georgia Sarquella-Brugada, Regina Sebastiano, Sanjay Sharma, Mary N. Sheppard, Keiko Shimamoto, M. Benjamin Shoemaker, Birgit Stallmeyer, Johannes Steinfurt, Yuji Tanaka, David J. Tester, Keisuke Usuda, Paul A. van der Zwaag, Sonia Van Dooren, Lut Van Laer, Annika Winbo, Bo G. Winkel, Kenichiro Yamagata, Sven Zumhagen, Paul G. A. Volders, Steven A. Lubitz, Charles Antzelevitch, Pyotr G. Platonov, Katja E. Odening, Dan M. Roden, Jason D. Roberts, Jonathan R. Skinner, Jacob Tfelt-Hansen, Maarten P. van den Berg, Morten S. Olesen, Pier D. Lambiase, Martin Borggrefe, Kenshi Hayashi, Annika Rydberg, Tadashi Nakajima, Masao Yoshinaga, Johan B. Saenen, Stefan Kääb, Pedro Brugada, Tomas Robyns, Daniela F. Giachino, Michael J. Ackerman, Ramon Brugada, Josep Brugada, Juan R. Gimeno, Can Hasdemir, Pascale Guicheney, Silvia G. Priori, Eric Schulze-Bahr, Naomasa Makita, Peter J. Schwartz, Wataru Shimizu, Takeshi Aiba, Jean-Jacques Schott, Richard Redon, Seiko Ohno, Vincent Probst, Elijah R. Behr, Julien Barc, Connie R. Bezzina
• Jahr: 2021
• Jahr des Originals: 2020
• Umfang: 12 S.
• Fussnoten: Published online: 7 September 2020 ; Gesehen am 15.04.2021
• Titel Quelle: Enthalten in: Genetics in medicine
• Ort Quelle: Amsterdam : Elsevier, 1998
• Jahr Quelle: 2021
• Band/Heft Quelle: 23(2021), 1, Seite 47-58
• ISSN Quelle: 1530-0366
• DOI: doi:10.1038/s41436-020-00946-5
• Datenträger: Online-Ressource
• Sprache: eng
• K10plus-PPN: 1755007086

Abstract

Stringent variant interpretation guidelines can lead to high rates of variants of uncertain significance (VUS) for genetically heterogeneous disease like long QT syndrome (LQTS) and Brugada syndrome (BrS). Quantitative and disease-specific customization of American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) guidelines can address this false negative rate.