Contribution of Noncanonical Splice Variants to TTN Truncating Variant Cardiomyopathy.

Parth N Patel Shefali S Verma Jon A L Willcox Alireza HaghighiMin Young JangJoshua M Gorham Steven R DePalma Lien Lam Barbara McDonough Renee Johnson Neal K Lakdawala Amy E Roberts Paul J R Barton Stuart Alexander Cook Diane Fatkin Christine E Seidman Jonathan G Seidman

Published in: Circulation. Genomic and precision medicine (2021)

Noncanonical splice-altering variants in TTN explain 1-2% of DCM and offer a 10-20% increase in the diagnostic power of TTN sequencing in this disease. These data suggest rules that may improve efforts to detect splice-altering variants in other genes and may explain the low percent splicing observed for many alternate TTN exons.

Keyphrases

copy number
genome wide
heart failure
electronic health record
single cell
big data
dna methylation
quality improvement