Publications by authors named "Shannon L Gallagher"
Circ Genom Precis Med
November 2018
Article Synopsis
- The rapid increase in known human gene variations presents challenges in classifying genetic variants, crucial for diagnosing and treating genetic diseases, especially those related to cardiac arrhythmias caused by ion channel mutations.
- A high-throughput method was developed using an automated platform for electrophysiological recording, allowing for efficient evaluation of ion channel variants in a laboratory setting.
- Testing 78 variants in the KCNQ1 gene confirmed this approach's accuracy and efficiency, providing valuable functional data that helped reclassify over 65% of the variants, supporting advancements in precision medicine.
