Suzanne de Bruijn

217 Structural variants cause ectopic enhancer-gene contact in retinitis pigmentosa ATATTTTTAATTTTTAAAAATTTTTTTTTCA AGATGGAGTCTCGCTCTGTCACCCAGGCT GTTAAGTTCTTCTGGGAGCCTTTGATTTTAGGTTGATAAGGGATTCCAGGAACTTAAATG W-X X-X X-Y ----------------------TCAAATTAGCAATAAAAACAG-TACTATATATATATAT ----------------------TCAAATTAGCAATAAAAACAG-TACTATATATATATAT * * **** * ** * * * * * F CCTTCAGCTCAATATATATATATTTTTTAAG AGA CA GAGTCT T GCTCTGTC G CCCAGGCT W-X X-X X-Y ATATTTTTAATTTTTAAAAATTTTTTTTTCA AGA TG GAGTCT C GCTCTGTC A CCCAGGCT * * ** * ** ****** *** ****** ******** ******** GG G GTGC C GTGGCA TG ATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCAAGCCATTC W-X X-X X-Y GG A GTGC A GTGGCA CA ATCTTGGCTCACTGCAACCTCTGCCCCCCAGGTTCAAG C CATTC GGAGTGCAGTGGCACAATCTTGGCTCACTGCAACCTCTGCCCCGCAGGTTCAAG TG ATTC ** **** ****** ***************** *** *** * ********** **** TCCTGCCTCAGCCTCCCTAGTAGCTGGGACTACAGGCATGC ACCACTATGCCTGGCTTAT W-X X-X X-Y TCCTGCCTCAGCCTCCC T AGTAGCTGGGA C TACAGGC A TGC ACCACTATGCCTGGCTTAT TCCTGCCTCAGCCTCCC A AGTAGCTGGGA T TACAGGC G TGC TGTAATT------------ ***************** *********** ******* *** * * TTTTGTATTTTTAGTAGATACGGGGTTTCACCATGATGGCCAGGCTAGTCTCGAACTCCC W-X X-X X-Y TTTTGTATTTTTAGTAGATACGGGGTTTCACCATGATGGCCAGGCTAGTCTCGAACTCCC -TTTGTACTTTTAGTAGAGATGGGGTTTCACCATCTTGGCCACGCTGGTCTTGAACTCTG ****** ********** * ************* ****** *** **** ****** G------------------------------------ W-X X-X X-Y G------------------------------------ PRR11 SMG8 GDPD1 YPEL2 LINC01476 UK-SV6 W X GDPD1 YPEL2 LINC01476 X GDPD1 YPEL2 X LINC01476 Y PRR11 SMG8 GDPD1 YPEL2 LINC01476 WT W X Y ACCTTGTGAGCCACCCGCCTCGGCTCCCGAAGTGCTC MIR4729 MIR4729 MIR4729 MIR4729 Figure continues on next page