NGS-based diagnostics: regulatory regions catalogue
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18 months ago

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.

non-coding genome medicine • 292 views
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A great thread, Actually I wanna know how these sound to you?

To clinically report a variant that is new, in a highly conserved regulatory region in a gene that previously known to be related to the disease? To clinically report a variant that is new, in a highly conserved regulatory region in a gene that has NOT been identified to be associated with the disease? To me, both have similar clinical utility to be reported to a family. I think databases on mutations in the regulatory regions would help kit designers more and more than clinical bioinformaticians.

I am highly interested to know how this- having a catalog of mutations in regulatory elements- would help you to clinically report a variant as disease-causing.

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