Most of detected variants in cardiogenetic panels are still classified as variants of unknown significance, requiring supplementary analyses for a definite classification. Performing further in-depth studies on such vast number of candidates is unfeasible. We sought to prioritise the novel nonsynonymous missense variants identified in titin gene (TTN) in a cohort of Romanian index cases with hypertrophic cardiomyopathy (HCM).
45 unrelated probands with HCM were screened by targeted next generation sequencing (NGS) covering all TTN exons. A stepwise strategy was used to select and prioritize the candidate variants for subsequent investigation.
Using rigorous bioinformatic filtering, 7 novel TTN nonsynonymous missense variants were identified and were the subject of
Herein we presented our strategy to hand-pick the novel TTN missense variants to be considered for further experimental studies. By applying various