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RNAseq data of polyA+ RNA from Leukocytes from 624 individuals of the SardiNIA cohort.

We sequenced the polyA+ of the RNA of the leukocytes from 624 sardinian individuals with RNAseq (Illumina 2000, an average of round 60M reads per sample, 51 + 51 nt). Combining the genotype information of the same individuals (already available from the ProgeNIA project) with the transcriptome data we identified 21,183 independent expression quantitative trait loci (eQTLs) and 6,768 independent splicing quantitative trait loci (sQTLs), including 619 novel QTLs that exhibit population-specific trait associations. Using family relationships, we identified 809 segregating expression outliers and provide a new approach to study large effect regulatory variants and their relevance to traits. Our results provide insight into the effects of regulatory variants and their relationship to population history and individual genetic risk.

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID Description Technology Samples
EGAD00001003102 Illumina HiSeq 2000 624
Publications Citations
Population- and individual-specific regulatory variation in Sardinia.
Nat Genet 49: 2017 700-707
Transcriptome organization of white blood cells through gene co-expression network analysis in a large RNA-seq dataset.
Front Immunol 15: 2024 1350111