Multi-dimensional structure function relationships in human β-cardiac myosin from population scale genetic variation.
Julian R Homburger, Eric M Green, Colleen Caleshu, Margaret Sunitha, Rebecca Taylor, Kathleen M Ruppel, Raghu Metpally, SHaRe Investigators, Steven D Colan, Michelle Michels, Sharlene Day, Iacopo Olivotto, Carlos D Bustamante, Frederick Dewey, Carolyn Ho, , Euan A Ashley
This study combines structural models of myosin, exome sequencing, and phenotypic data to identify disease-associated variants in specific structural regions of β-cardiac myosin linked to HCM severity.
bioRxiv · Feb 9, 2016Genomics