A rapid solubility assay of protein domain misfolding for pathogenicity assessment of rare DNA sequence variants.

Corey L AndersonTim C RoutesLee L EckhardtBrian P DelisleCraig T JanuaryTimothy J Kamp

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2020)

This simple solubility assay can aid in determining the likelihood of pathogenicity for sequence variants due to protein misfolding in structured domains of disease-associated genes as well as provide insights into the structural basis of disease.

Keyphrases

structural basis
amino acid
copy number
high throughput
protein protein
biofilm formation
genome wide
single molecule
circulating tumor
gene expression
escherichia coli
dna methylation
pseudomonas aeruginosa
single cell
loop mediated isothermal amplification
quantum dots