Scalable sequence–function studies have enabled the systematic analysis and cataloging of
hundreds of thousands of coding and noncoding genetic variants in the human genome …

Predicting the effects of mutations in proteins is critical to many applications, from
understanding genetic disease to designing novel proteins to address our most pressing …

Patch-clamp electrophysiology remains an important technique in studying ion channels;
indeed, it is still considered the gold standard since it was first described by Neher and …

A long-standing goal in protein science and clinical genetics is to develop quantitative
models of sequence, structure, and function relationships to understand how mutations …

Coronaviruses (CoV), including SARS-CoV-2, modulate host proteostasis through the
activation of stress-responsive signaling pathways such as the Unfolded Protein Response …

Predicting the effects of mutations in proteins is critical to many applications, from
understanding genetic disease to designing novel proteins that can address our most …

Precision medicine strives for highly individualized treatments for disease under the notion
that each individual's unique genetic makeup and environmental exposures imprints upon …

Although automated patch clamp (APC) devices have been around for many years and have
become an integral part of many aspects of drug discovery, high throughput instruments with …

Many genes, including KCNH2, contain" hotspot" domains associated with a high density of
variants associated with disease. This has led to the suggestion that variant location can be …

Pathogenic variants in SCN8A, which encodes the voltage-gated sodium (Na V) channel Na
V 1.6, associate with neurodevelopmental disorders, including developmental and epileptic …