• SyncroPatch 384

    Next level versatility and flexibility
  • SyncroPatch 384

    True HTS and GigaOhm seals
  • SyncroPatch 384

    Your multi purpose instrument
  • SyncroPatch 384

    Powerful analysis software
  • SyncroPatch 384

    Assay flexibility via high tech
  • SyncroPatch 384

    Heating and cooling of solutions, cells and patch clamp sites

2022 - Arrhythmia variant associations and reclassifications in the eMERGE-III sequencing study

icon sp96  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.


Download here

Back to Overview

We use cookies on our website. Some of them are essential for the operation of the site, while others help us to improve this site and the user experience (tracking cookies). You can decide for yourself whether you want to allow cookies or not. Please note that if you reject them, you may not be able to use all the functionalities of the site.