GeneticsbioRxiv
Calling genotypes from public RNA-sequencing data enables identification of genetic variants that affect gene-expression levels
Patrick Deelen, Daria Zhernakova, Mark de Haan…·Lude Franke
The paper identifies genetic variants affecting gene expression using genotypes derived from public RNA-seq data, finding cis-eQTLs for 8,034 genes and strong ASE effects for 34 rare pathogenic variants.
DOI 10.1186/s13073-015-0152-4