Can anyone help me explain what allelic imbalance is, hopefully shortly? Surprisingly, we cannot find any introduction online.

  • 1
    $\begingroup$ Some more context would help. Where did you see the term? Is it with respect to a phenotype? A gene? A population? An individual? $\endgroup$
    – terdon
    Nov 29 '18 at 11:49
  • $\begingroup$ You may also consider looking into allele-specific expression. That may turn up more information on allelic imbalance. $\endgroup$ Nov 29 '18 at 14:31

It might be used differently in different contexts, but generally speaking, in my world - allelic imbalance is when there's a difference in the level of gene expression from different alleles, usually through genetic (e.g. a variant in a promoter) or epigenetic mechanisms (e.g. one copy silenced, as in imprinted regions).

There are a few blog posts here with some more information, and plenty of papers (google "Allelic imbalance") if you want to dig deeper.


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