2022 - Arrhythmia variant associations and reclassifications in the eMERGE-III sequencing study
SyncroPatch 768 PE (a predecessor model of the SyncroPatch 384 instrument) publication in Circulation (2022)
Authors:
Glazer A. M., Davogustto G., Shaffer C. M.,Vanoye C. G., Desai R. R., Farber-Eger E. H., Dikilitas O., Shang N., Pacheco J. A., Yang T., Muhammad A., Mosley J. D., Van Driest S. L., Wells Q. S., Rinke L. L., Kalash O. R., Wada Y., Bland S., Yoneda Z. T., Mitchell D. W., Kroncke B. M., Kullo I. J., Jarvik G. P., Gordon A. S., Larson E. B., Manolio T. A., Mirshahi T., Luo J. Z.,Schaid D., Namjou B., Alsaied T., Singh R., Singhal A., Liu C., Wenig C., Hripcsak G., Ralston J. D., McNally E. M., Chung W. K., Carrell D. S., Leppig K. A., Hakonarson H., Sleiman P., Sohn S., Glessner J., the eMERGE Network, Denny J., Wie W-Q., Jr. George A. L., Shoemaker M. B., Roden D. M.
Journal:
Circulation (2022) doi:10.1161/CIRCULATIONAHA.121.055562
Abstract:
Sequencing Mendelian arrhythmia genes in individuals without an indication for arrhythmia genetic testing can identify carriers of pathogenic or likely pathogenic (P/LP) variants. However, the extent to which these variants are associated with clinically meaningful phenotypes before or after return of variant results is unclear. In addition, the majority of discovered variants are currently classified as variants of uncertain significance, limiting clinical actionability.
