Ontology highlight
ABSTRACT:
SUBMITTER: Ma JG
PROVIDER: S-EPMC10712320 | biostudies-literature | 2023
REPOSITORIES: biostudies-literature
Ma Joanne G JG Vandenberg Jamie I JI Ng Chai-Ann CA
Frontiers in physiology 20231127
Advances in next-generation sequencing have been exceptionally valuable for identifying variants in medically actionable genes. However, for most missense variants there is insufficient evidence to permit definitive classification of variants as benign or pathogenic. To overcome the deluge of Variants of Uncertain Significance, there is an urgent need for high throughput functional assays to assist with the classification of variants. Advances in parallel planar patch clamp technologies has enab ...[more]