학술논문
Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls
Document Type
Article
Author
Walsh, Roddy; Lahrouchi, Najim; Tadros, Rafik; Kyndt, Florence; Glinge, Charlotte; Postema, Pieter G.; Amin, Ahmad S.; Nannenberg, Eline A.; Ware, James S.; Whiffin, Nicola; Mazzarotto, Francesco; Škorić-Milosavljević, Doris; Krijger, Christian; Arbelo, Elena; Babuty, Dominique; Barajas-Martinez, Hector; Beckmann, Britt M.; Bézieau, Stéphane; Bos, J. Martijn; Breckpot, Jeroen; Campuzano, Oscar; Castelletti, Silvia; Celen, Candan; Clauss, Sebastian; Corveleyn, Anniek; Crotti, Lia; Dagradi, Federica; de Asmundis, Carlo; Denjoy, Isabelle; Dittmann, Sven; Ellinor, Patrick T.; Ortuño, Cristina Gil; Giustetto, Carla; Gourraud, Jean-Baptiste; Hazeki, Daisuke; Horie, Minoru; Ishikawa, Taisuke; Itoh, Hideki; Kaneko, Yoshiaki; Kanters, Jørgen K.; Kimoto, Hiroki; Kotta, Maria-Christina; Krapels, Ingrid P.C.; Kurabayashi, Masahiko; Lazarte, Julieta; Leenhardt, Antoine; Loeys, Bart L.; Lundin, Catarina; Makiyama, Takeru; Mansourati, Jacques; Martins, Raphaël P.; Mazzanti, Andrea; Mörner, Stellan; Napolitano, Carlo; Ohkubo, Kimie; Papadakis, Michael; Rudic, Boris; Molina, Maria Sabater; Sacher, Frédéric; Sahin, Hatice; Sarquella-Brugada, Georgia; Sebastiano, Regina; Sharma, Sanjay; Sheppard, Mary N.; Shimamoto, Keiko; Shoemaker, M.Benjamin; Stallmeyer, Birgit; Steinfurt, Johannes; Tanaka, Yuji; Tester, David J.; Usuda, Keisuke; van der Zwaag, Paul A.; Van Dooren, Sonia; Van Laer, Lut; Winbo, Annika; Winkel, Bo G.; Yamagata, Kenichiro; Zumhagen, Sven; Volders, Paul G.A.; Lubitz, Steven A.; Antzelevitch, Charles; Platonov, Pyotr G.; Odening, Katja E.; Roden, Dan M.; Roberts, Jason D.; Skinner, Jonathan R.; Tfelt-Hansen, Jacob; van den Berg, Maarten P.; Olesen, Morten S.; Lambiase, Pier D.; Borggrefe, Martin; Hayashi, Kenshi; Rydberg, Annika; Nakajima, Tadashi; Yoshinaga, Masao; Saenen, Johan B.; Kääb, Stefan; Brugada, Pedro; Robyns, Tomas; Giachino, Daniela F.; Ackerman, Michael J.; Brugada, Ramon; Brugada, Josep; Gimeno, Juan R.; Hasdemir, Can; Guicheney, Pascale; Priori, Silvia G.; Schulze-Bahr, Eric; Makita, Naomasa; Schwartz, Peter J.; Shimizu, Wataru; Aiba, Takeshi; Schott, Jean-Jacques; Redon, Richard; Ohno, Seiko; Probst, Vincent; Arnaout, Alain Al; Amelot, Mathieu; Anselme, Frédéric; Billon, Olivier; Defaye, Pascal; Dupuis, Jean-Marc; Jesel, Laurence; Laurent, Gabriel; Maury, Philippe; Pasquie, Jean-Luc; Wiart, Francois; Behr, Elijah R.; Barc, Julien; Bezzina, Connie R.
Source
Genetics in Medicine; January 2021, Vol. 23 Issue: 1 p47-58, 12p
Subject
Language
ISSN
10983600; 15300366
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.