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. Author manuscript; available in PMC: 2022 Dec 6.
Published in final edited form as: Science. 2022 Mar 17;375(6586):1247–1254. doi: 10.1126/science.abj5117

Figure 1 -. Design and implementation of a variant-based massively parallel reporter assay.

Figure 1 -

(A) Variant selection and oligonucleotide sequence design. (B) Random barcoding, sequencing and expression of the MPRA library. (C) Distribution of eQTLs (orange) and non-eQTLs (blue) from the 1000 Genomes Project compared to Tewhey et al. (green) (8) variant expression p-values (negative binomial regression) and relative effect proportions. Inset shows proportion of tested variants that are significant MPRA hits. (D) Same as in (C) but with allelic p-values (negative binomial regression) (E) Genomic position and unadjusted p-values for all tested BRCA1-associated variants with colors indicating Benjamini-Hochberg (BH) adjusted p-value <= 0.05. Vertical magenta lines indicate positions of variants that are both expression and allelic MPRA hits.