Alternative Splicing, Internal Promoter, Nonsense-Mediated Decay, or All Three: Explaining the Distribution of Truncation Variants in Titin [Original Articles]

Conclusions—
We conclude that quantitative models derived from large-scale human genetic and phenotypic data can be applied to help overcome the ever-growing challenges of genetic data interpretation. Results of our approach can be found at http://cvri.ucsf.edu/~deo/TTNtruncationvariant.html.

Source: Circulation: Cardiovascular Genetics - October 17, 2016 Category: Cardiology Authors: Deo, R. C. Tags: Genetics, Cardiomyopathy Original Articles Source Type: research