Common cis-eQTLs do not explain chromosome 21 expression deviations from the ploidy expectation in Down syndrome
Down syndrome (DS) results from trisomy 21 (T21), the triplication of human chromosome 21 (HSA21). On average, genes on HSA21 are overexpressed at the expected 1.5-fold increase. A small subset of HSA21 genes is expressed closer to euploid levels. Could local genetic regulatory variation explain deviations from the expected dosage? Using the largest DS-specific transcriptomic dataset to date from…
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