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Multiple Causal Variants Underlie Genetic Associations in Humans
[article]
2021
bioRxiv
pre-print
The majority of associations between genetic variation and human traits and diseases are non-coding and in strong linkage disequilibrium (LD) with surrounding genetic variation. In these cases, a single causal variant is often assumed to underlie the association, however no systematic assessment of the number of causal variants has been performed. In this study, we applied a massively parallel reporter assay (MPRA) in lymphoblastoid cells to functionally evaluate 49,256 allelic pairs,
doi:10.1101/2021.05.24.445471
fatcat:wldjlmqwqrdilfks7niljv772i