Dear members of community,
I am doing medical bioinformatics diagnostics/research based on coding sequences (rarely promoters) of genomes and exomes.
I wander if there is a catalogue of non-coding parts of human genomes which are crucial for the genetic disease diagnostics, such as enhancers, non-coding RNAs.
ENCODE 3 was just released, however, I am absolutely unaware about the implications for the medical bioinformaitcs (diagnostics, not research) - maybe any of you has broader knowledge and is willing to share?
UPD: just checked ENdb of enhancers of disease causing genes and considered only large deletions of these regions in >800 WGS - there is no phenotype match at all. So I guess we are still not there.