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Chunk #24 — Results — Identification of Functional mirSNPs

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PASSPORT-seq: A Novel High-Throughput Bioassay to Functionally Test Polymorphisms in Micro-RNA Target Sites.
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Of the 100 mirSNPs tested, 69 showed statistically significant (p < 0.05) differences in expression between the variant and its respective reference allele in at least one cell line (Figure 2B). In HEK293, HepG2, and HeLa a significant effect was seen in 27, 44, and 39 mirSNPs, respectively (see Supplementary Figure 7). Due to the large number mirSNPs tested, the results were corrected using the Benjamini and Hochberg procedure across cell lines. This conservative threshold (FDR ≤ 0.05) was met by 55 mirSNPs in at least one cell line with 11, 36, and 27 in HEK293, HepG2, and HeLa cells, respectively. Because these variants were informatically predicted to be functional, this may be an overly conservative statistical correction. The effect of the mirSNPs was cell line- specific; four SNPs were functional across all three cell lines, while others were functional in either two cell lines or unique to one cell line (Figure 3).