CORDIS Project
Funding breakdown and partner intelligence are Premium
Sign in and upgrade to Premium for EU contribution totals, consortium analytics, OpenAlex research context, and AI summaries. · 0 consortium intelligence fields visible of 1
Start free • Cancel anytime • 14-day refund guarantee
The project aims to develop a diagnostic tool for assessing the impact of mutations in the titin protein, which are linked to heart disorders. It will create a scoring system to predict the effects of these mutations, helping clinicians identify at-risk patients.
Mutations in the giant muscle protein titin are a major cause of heart disorders in human populations.
Routine DNA screening of patient cohorts is now becoming feasible, with a staggering number of titin truncations and missense single nucleotide polymorphisms (mSNPs) rapidly accumulating in genomics databases (>17,000 mSNPs).
While the link between titin truncation and disease is now becoming clarified, detecting the pathogenic potential of mSNPs remains a substantial challenge.
In mSNPs classi…
UNIVERSITAT KONSTANZ
Partner organizations (coordinator is shown above), with normalized type and CORDIS activity type. Guests see up to 4 partners.
Similar projects, consortium collaboration history, frequent partners, and OpenAlex research context.
Guests see up to 5 EuroSciVoc fields.
Guests see up to 5 topics.
