Chunk #12 — Genomic effect of CNVs

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Origins and functional impact of copy number variation in the human genome.

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We also identified 56 potential fusion genes (Supplementary Table 1.3) and experimentally validated four (AKR7L–AKR7A3, BTNL3–BTNL8, LCE1D–LCE1E and SIGLEC5–SIGLEC14) of five tested. Interestingly, 55% of the gene fusions arise between paralogous gene family members, which may be less likely to generate truly novel gene functions.