Massively Parallel Reporter Assay Confirms Regulatory Potential of hQTLs and Reveals Important Variants in Lupus and Other Autoimmune Diseases
Yao Fu, Jennifer A. Kelly, Jaanam Gopalakrishnan, Richard C. Pelikan, Kandice L. Tessneer, Satish Pasula, Kiely M. Grundahl, David A. Murphy, Patrick M. Gaffney
The paper uses a massively parallel reporter assay to identify variants influencing gene expression in lupus and autoimmune diseases, finding hQTLs are more functional than eQTLs and identifying 31 putative causal variants.
Human Genetics and Genomics Advances · Feb 23, 2024Peer-reviewedGenomics