You might have noticed last week that we reported on some new research coming out of Washington University that revealed the impact structural variations can have on gene expression, but it seems we weren’t the only people paying attention. In a new MassGenomics post, long-time friend of FLG, Dan Koboldt breaks the research down into the statistics of expression quantitative trait loci and just what they mean for gene expression.

Gene Expression

Heritability of each eQTL apportioned to the most significant SV in the cis window (X-axis) and the additive effect from the top 1,000 most significant SNVs and indels in the cis window (Y-axis) in joint eQTL (left) or mapping (right) analyses (Chiang et al, Nat. Genet. 2017)

‘Gene expression offers an appealing intermediate phenotype. It’s influenced by sequence variation, quantifiable, and can be assayed in high-throughput fashion. Early systematic efforts to identify expression quantitative trait loci (eQTLs) revealed some fascinating insights into the genetic regulation of gene expression, such as the fact that much of that genetic control occurs in noncoding regions. Also, most eQTLs were identified in proximity to the affected gene (cis-eQTLs), but some were millions of base pairs away or on other chromosomes entirely (trans-eQTLs).’

You can read this story and many more over on Dan’s blog, MassGenomics, or have a look at some of the content he’s written with FLG in the past.

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