Multiplexed Functional Assessments of MYH7 Variants in Human Cardiomyocytes.
Clayton E FriedmanShawn FayerSriram PendyalaWei-Ming ChienAlexander M LoibenLinda TranLeslie S ChaoAshley McKinstryDania AhmedStephen D FarrisApril Stempien-OteroErica C JonlinCharles E MurryJoshua T SchifferDouglas M FowlerKai-Chun YangPublished in: Circulation. Genomic and precision medicine (2024)
missense variants for the first time. Phenotyping strategies used here enable the application of deep mutational scanning to clinically actionable genes, which should reduce the burden of variants of unknown significance on patients and clinicians.
Keyphrases
- copy number
- end stage renal disease
- endothelial cells
- newly diagnosed
- ejection fraction
- chronic kidney disease
- genome wide
- high throughput
- heart failure
- palliative care
- single cell
- gene expression
- dna methylation
- hypertrophic cardiomyopathy
- autism spectrum disorder
- risk factors
- mass spectrometry
- induced pluripotent stem cells
- electron microscopy